SNP Links for Protein (Select 5031875) - SNP

Links from Protein

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Select item 14909793781.

rs1490979378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156115041 (GRCh38)
1:156084832 (GRCh37)
Canonical SPDI:: NC_000001.11:156115040:C:T
Gene:: LMNA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.156115041C>T, NC_000001.10:g.156084832C>T, NG_008692.2:g.37469C>T, NM_170707.4:c.123C>T, NM_170707.3:c.123C>T, NM_170708.4:c.123C>T, NM_170708.3:c.123C>T, NM_005572.4:c.123C>T, NM_005572.3:c.123C>T, NM_001282626.2:c.123C>T, NM_001282626.1:c.123C>T, NM_001282625.2:c.123C>T, NM_001282625.1:c.123C>T, NM_001406983.1:c.123C>T, NM_001406999.1:c.-722C>T, NM_001406986.1:c.-301C>T, NM_001406991.1:c.123C>T, NM_001407000.1:c.-542C>T, NM_001407001.1:c.-385C>T, NM_001406995.1:c.-279C>T, NM_001406994.1:c.-542C>T, NM_001406985.1:c.123C>T, NM_001406984.1:c.123C>T, NM_001406990.1:c.-279C>T, NM_001407002.1:c.-279C>T, NM_001406992.1:c.123C>T, NR_047544.1:n.764C>T, XM_047420430.1:c.123C>T

Select item 14882613872.

rs1488261387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156135240 (GRCh38)
1:156105031 (GRCh37)
Canonical SPDI:: NC_000001.11:156135239:C:T
Gene:: LMNA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.156135240C>T, NC_000001.10:g.156105031C>T, NG_008692.2:g.57668C>T, NM_170707.4:c.864C>T, NM_170707.3:c.864C>T, NM_170708.4:c.864C>T, NM_170708.3:c.864C>T, NM_005572.4:c.864C>T, NM_005572.3:c.864C>T, NM_001257374.3:c.528C>T, NM_001257374.2:c.528C>T, NM_001257374.1:c.528C>T, NM_001282626.2:c.864C>T, NM_001282626.1:c.864C>T, NM_001282625.2:c.864C>T, NM_001282625.1:c.864C>T, NM_001282624.2:c.621C>T, NM_001282624.1:c.621C>T, NM_001406983.1:c.864C>T, NM_001406999.1:c.200C>T, NM_001406986.1:c.621C>T, NM_001406991.1:c.864C>T, NM_001407000.1:c.200C>T, NM_001407001.1:c.200C>T, NM_001406995.1:c.306C>T, NM_001406996.1:c.306C>T, NM_001406987.1:c.621C>T, NM_001406988.1:c.567C>T, NM_001406993.1:c.306C>T, NM_001406997.1:c.306C>T, NM_001406989.1:c.528C>T, NM_001406994.1:c.200C>T, NM_001406985.1:c.864C>T, NM_001406984.1:c.864C>T, NM_001406990.1:c.306C>T, NM_001407002.1:c.306C>T, NM_001406992.1:c.864C>T, NM_001407003.1:c.306C>T, NM_001406998.1:c.528C>T, XM_011509533.2:c.528C>T, NR_047544.1:n.1505C>T, NR_047545.1:n.752C>T, XM_047420430.1:c.864C>T

Select item 14837558593.

rs1483755859 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:156137663 (GRCh38)
1:156107454 (GRCh37)
Canonical SPDI:: NC_000001.11:156137662:A:C
Gene:: LMNA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.156137663A>C, NC_000001.10:g.156107454A>C, NG_008692.2:g.60091A>C, NM_170707.4:c.1618A>C, NM_170707.3:c.1618A>C, NM_005572.4:c.1618A>C, NM_005572.3:c.1618A>C, NM_001257374.3:c.1282A>C, NM_001257374.2:c.1282A>C, NM_001257374.1:c.1282A>C, NM_001282626.2:c.1618A>C, NM_001282626.1:c.1618A>C, NM_001282625.2:c.1618A>C, NM_001282625.1:c.1618A>C, NM_001282624.2:c.1375A>C, NM_001282624.1:c.1375A>C, NM_001406983.1:c.1618A>C, NM_001406999.1:c.994A>C, NM_001406986.1:c.1375A>C, NM_001406991.1:c.1618A>C, NM_001407000.1:c.994A>C, NM_001407001.1:c.994A>C, NM_001406995.1:c.1060A>C, NM_001406996.1:c.1060A>C, NM_001406987.1:c.1375A>C, NM_001406988.1:c.1321A>C, NM_001406993.1:c.1060A>C, NM_001406997.1:c.1060A>C, NM_001406989.1:c.1282A>C, NM_001406994.1:c.994A>C, NM_001406985.1:c.1618A>C, NM_001406984.1:c.1618A>C, NM_001406990.1:c.1060A>C, NM_001407002.1:c.1060A>C, NM_001406992.1:c.1618A>C, NM_001407003.1:c.1060A>C, NM_001406998.1:c.1282A>C, XM_011509533.2:c.1282A>C, NR_047544.1:n.2259A>C, NR_047545.1:n.1506A>C, NP_733821.1:p.Met540Leu, NP_005563.1:p.Met540Leu, NP_001244303.1:p.Met428Leu, NP_001269555.1:p.Met540Leu, NP_001269554.1:p.Met540Leu, NP_001269553.1:p.Met459Leu, XP_011507835.1:p.Met428Leu

Select item 14810709804.

rs1481070980 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156136302 (GRCh38)
1:156106093 (GRCh37)
Canonical SPDI:: NC_000001.11:156136301:A:G
Gene:: LMNA (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156136302A>G, NC_000001.10:g.156106093A>G, NG_008692.2:g.58730A>G, NM_170707.4:c.1246A>G, NM_170707.3:c.1246A>G, NM_170708.4:c.1246A>G, NM_170708.3:c.1246A>G, NM_005572.4:c.1246A>G, NM_005572.3:c.1246A>G, NM_001257374.3:c.910A>G, NM_001257374.2:c.910A>G, NM_001257374.1:c.910A>G, NM_001282626.2:c.1246A>G, NM_001282626.1:c.1246A>G, NM_001282625.2:c.1246A>G, NM_001282625.1:c.1246A>G, NM_001282624.2:c.1003A>G, NM_001282624.1:c.1003A>G, NM_001406983.1:c.1246A>G, NM_001406999.1:c.622A>G, NM_001406986.1:c.1003A>G, NM_001406991.1:c.1246A>G, NM_001407000.1:c.622A>G, NM_001407001.1:c.622A>G, NM_001406995.1:c.688A>G, NM_001406996.1:c.688A>G, NM_001406987.1:c.1003A>G, NM_001406988.1:c.949A>G, NM_001406993.1:c.688A>G, NM_001406997.1:c.688A>G, NM_001406989.1:c.910A>G, NM_001406994.1:c.622A>G, NM_001406985.1:c.1246A>G, NM_001406984.1:c.1246A>G, NM_001406990.1:c.688A>G, NM_001407002.1:c.688A>G, NM_001406992.1:c.1246A>G, NM_001407003.1:c.688A>G, NM_001406998.1:c.910A>G, XM_011509533.2:c.910A>G, NR_047544.1:n.1887A>G, NR_047545.1:n.1134A>G, NP_733821.1:p.Thr416Ala, NP_733822.1:p.Thr416Ala, NP_005563.1:p.Thr416Ala, NP_001244303.1:p.Thr304Ala, NP_001269555.1:p.Thr416Ala, NP_001269554.1:p.Thr416Ala, NP_001269553.1:p.Thr335Ala, XP_011507835.1:p.Thr304Ala

Select item 14773238395.

rs1477323839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:156114928 (GRCh38)
1:156084719 (GRCh37)
Canonical SPDI:: NC_000001.11:156114927:C:A,NC_000001.11:156114927:C:T
Gene:: LMNA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156114928C>A, NC_000001.11:g.156114928C>T, NC_000001.10:g.156084719C>A, NC_000001.10:g.156084719C>T, NG_008692.2:g.37356C>A, NG_008692.2:g.37356C>T, NM_170707.4:c.10C>A, NM_170707.4:c.10C>T, NM_170707.3:c.10C>A, NM_170707.3:c.10C>T, NM_170708.4:c.10C>A, NM_170708.4:c.10C>T, NM_170708.3:c.10C>A, NM_170708.3:c.10C>T, NM_005572.4:c.10C>A, NM_005572.4:c.10C>T, NM_005572.3:c.10C>A, NM_005572.3:c.10C>T, NM_001282626.2:c.10C>A, NM_001282626.2:c.10C>T, NM_001282626.1:c.10C>A, NM_001282626.1:c.10C>T, NM_001282625.2:c.10C>A, NM_001282625.2:c.10C>T, NM_001282625.1:c.10C>A, NM_001282625.1:c.10C>T, NM_001406983.1:c.10C>A, NM_001406983.1:c.10C>T, NM_001406999.1:c.-835C>A, NM_001406999.1:c.-835C>T, NM_001406986.1:c.-414C>A, NM_001406986.1:c.-414C>T, NM_001406991.1:c.10C>A, NM_001406991.1:c.10C>T, NM_001407000.1:c.-655C>A, NM_001407000.1:c.-655C>T, NM_001407001.1:c.-498C>A, NM_001407001.1:c.-498C>T, NM_001406995.1:c.-392C>A, NM_001406995.1:c.-392C>T, NM_001406994.1:c.-655C>A, NM_001406994.1:c.-655C>T, NM_001406985.1:c.10C>A, NM_001406985.1:c.10C>T, NM_001406984.1:c.10C>A, NM_001406984.1:c.10C>T, NM_001406990.1:c.-392C>A, NM_001406990.1:c.-392C>T, NM_001407002.1:c.-392C>A, NM_001407002.1:c.-392C>T, NM_001406992.1:c.10C>A, NM_001406992.1:c.10C>T, NR_047544.1:n.651C>A, NR_047544.1:n.651C>T, XM_047420430.1:c.10C>A, XM_047420430.1:c.10C>T, NP_733821.1:p.Pro4Thr, NP_733821.1:p.Pro4Ser, NP_733822.1:p.Pro4Thr, NP_733822.1:p.Pro4Ser, NP_005563.1:p.Pro4Thr, NP_005563.1:p.Pro4Ser, NP_001269555.1:p.Pro4Thr, NP_001269555.1:p.Pro4Ser, NP_001269554.1:p.Pro4Thr, NP_001269554.1:p.Pro4Ser, XP_047276386.1:p.Pro4Thr, XP_047276386.1:p.Pro4Ser

Select item 14746987836.

rs1474698783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:156137754 (GRCh38)
1:156107545 (GRCh37)
Canonical SPDI:: NC_000001.11:156137753:G:A,NC_000001.11:156137753:G:C
Gene:: LMNA (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00669/189 (TOMMO)
HGVS:: NC_000001.11:g.156137754G>A, NC_000001.11:g.156137754G>C, NC_000001.10:g.156107545G>A, NC_000001.10:g.156107545G>C, NG_008692.2:g.60182G>A, NG_008692.2:g.60182G>C, NM_005572.4:c.1709G>A, NM_005572.4:c.1709G>C, NM_005572.3:c.1709G>A, NM_005572.3:c.1709G>C, NM_001282625.2:c.1709G>A, NM_001282625.2:c.1709G>C, NM_001282625.1:c.1709G>A, NM_001282625.1:c.1709G>C, NM_001282624.2:c.1466G>A, NM_001282624.2:c.1466G>C, NM_001282624.1:c.1466G>A, NM_001282624.1:c.1466G>C, NM_001406984.1:c.1709G>A, NM_001406984.1:c.1709G>C, NM_001407002.1:c.1151G>A, NM_001407002.1:c.1151G>C, NM_001406992.1:c.1709G>A, NM_001406992.1:c.1709G>C, NM_001407003.1:c.1151G>A, NM_001407003.1:c.1151G>C, NM_001406998.1:c.1373G>A, NM_001406998.1:c.1373G>C, NR_047544.1:n.2350G>A, NR_047544.1:n.2350G>C, NR_047545.1:n.1597G>A, NR_047545.1:n.1597G>C, NP_005563.1:p.Ser570Asn, NP_005563.1:p.Ser570Thr, NP_001269554.1:p.Ser570Asn, NP_001269554.1:p.Ser570Thr, NP_001269553.1:p.Ser489Asn, NP_001269553.1:p.Ser489Thr

Select item 14719075187.

rs1471907518 has merged into rs58013325 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 1:156137145 (GRCh38)
1:156106936 (GRCh37)
Canonical SPDI:: NC_000001.11:156137144:CCCCCC:CCCCC,NC_000001.11:156137144:CCCCCC:CCCCCCC
Gene:: LMNA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Clinical significance:: likely-pathogenic,pathogenic
Validated:: by cluster
HGVS:: NC_000001.11:g.156137150del, NC_000001.11:g.156137150dup, NC_000001.10:g.156106941del, NC_000001.10:g.156106941dup, NG_008692.2:g.59578del, NG_008692.2:g.59578dup, NM_170707.4:c.1526del, NM_170707.4:c.1526dup, NM_170707.3:c.1526del, NM_170707.3:c.1526dup, NM_170708.4:c.1526del, NM_170708.4:c.1526dup, NM_170708.3:c.1526del, NM_170708.3:c.1526dup, NM_005572.4:c.1526del, NM_005572.4:c.1526dup, NM_005572.3:c.1526del, NM_005572.3:c.1526dup, NM_001257374.3:c.1190del, NM_001257374.3:c.1190dup, NM_001257374.2:c.1190del, NM_001257374.2:c.1190dup, NM_001257374.1:c.1190del, NM_001257374.1:c.1190dup, NM_001282626.2:c.1526del, NM_001282626.2:c.1526dup, NM_001282626.1:c.1526del, NM_001282626.1:c.1526dup, NM_001282625.2:c.1526del, NM_001282625.2:c.1526dup, NM_001282625.1:c.1526del, NM_001282625.1:c.1526dup, NM_001282624.2:c.1283del, NM_001282624.2:c.1283dup, NM_001282624.1:c.1283del, NM_001282624.1:c.1283dup, NM_001406983.1:c.1526del, NM_001406983.1:c.1526dup, NM_001406999.1:c.902del, NM_001406999.1:c.902dup, NM_001406986.1:c.1283del, NM_001406986.1:c.1283dup, NM_001406991.1:c.1526del, NM_001406991.1:c.1526dup, NM_001407000.1:c.902del, NM_001407000.1:c.902dup, NM_001407001.1:c.902del, NM_001407001.1:c.902dup, NM_001406995.1:c.968del, NM_001406995.1:c.968dup, NM_001406996.1:c.968del, NM_001406996.1:c.968dup, NM_001406987.1:c.1283del, NM_001406987.1:c.1283dup, NM_001406988.1:c.1229del, NM_001406988.1:c.1229dup, NM_001406993.1:c.968del, NM_001406993.1:c.968dup, NM_001406997.1:c.968del, NM_001406997.1:c.968dup, NM_001406989.1:c.1190del, NM_001406989.1:c.1190dup, NM_001406994.1:c.902del, NM_001406994.1:c.902dup, NM_001406985.1:c.1526del, NM_001406985.1:c.1526dup, NM_001406984.1:c.1526del, NM_001406984.1:c.1526dup, NM_001406990.1:c.968del, NM_001406990.1:c.968dup, NM_001407002.1:c.968del, NM_001407002.1:c.968dup, NM_001406992.1:c.1526del, NM_001406992.1:c.1526dup, NM_001407003.1:c.968del, NM_001407003.1:c.968dup, NM_001406998.1:c.1190del, NM_001406998.1:c.1190dup, XM_011509533.2:c.1190del, XM_011509533.2:c.1190dup, NR_047544.1:n.2167del, NR_047544.1:n.2167dup, NR_047545.1:n.1414del, NR_047545.1:n.1414dup, NP_733821.1:p.Pro509fs, NP_733821.1:p.Thr510fs, NP_733822.1:p.Pro509fs, NP_733822.1:p.Thr510fs, NP_005563.1:p.Pro509fs, NP_005563.1:p.Thr510fs, NP_001244303.1:p.Pro397fs, NP_001244303.1:p.Thr398fs, NP_001269555.1:p.Pro509fs, NP_001269555.1:p.Thr510fs, NP_001269554.1:p.Pro509fs, NP_001269554.1:p.Thr510fs, NP_001269553.1:p.Pro428fs, NP_001269553.1:p.Thr429fs, XP_011507835.1:p.Pro397fs, XP_011507835.1:p.Thr398fs

Select item 14716558488.

rs1471655848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156135960 (GRCh38)
1:156105751 (GRCh37)
Canonical SPDI:: NC_000001.11:156135959:C:T
Gene:: LMNA (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00011/2 (TOMMO)
T=0.00055/1 (Korea1K)
HGVS:: NC_000001.11:g.156135960C>T, NC_000001.10:g.156105751C>T, NG_008692.2:g.58388C>T, NM_170707.4:c.996C>T, NM_170707.3:c.996C>T, NM_170708.4:c.996C>T, NM_170708.3:c.996C>T, NM_005572.4:c.996C>T, NM_005572.3:c.996C>T, NM_001257374.3:c.660C>T, NM_001257374.2:c.660C>T, NM_001257374.1:c.660C>T, NM_001282626.2:c.996C>T, NM_001282626.1:c.996C>T, NM_001282625.2:c.996C>T, NM_001282625.1:c.996C>T, NM_001282624.2:c.753C>T, NM_001282624.1:c.753C>T, NM_001406983.1:c.996C>T, NM_001406999.1:c.372C>T, NM_001406986.1:c.753C>T, NM_001406991.1:c.996C>T, NM_001407000.1:c.372C>T, NM_001407001.1:c.372C>T, NM_001406995.1:c.438C>T, NM_001406996.1:c.438C>T, NM_001406987.1:c.753C>T, NM_001406988.1:c.699C>T, NM_001406993.1:c.438C>T, NM_001406997.1:c.438C>T, NM_001406989.1:c.660C>T, NM_001406994.1:c.372C>T, NM_001406985.1:c.996C>T, NM_001406984.1:c.996C>T, NM_001406990.1:c.438C>T, NM_001407002.1:c.438C>T, NM_001406992.1:c.996C>T, NM_001407003.1:c.438C>T, NM_001406998.1:c.660C>T, XM_011509533.2:c.660C>T, NR_047544.1:n.1637C>T, NR_047545.1:n.884C>T, XM_047420430.1:c.*7C>T

Select item 14716495579.

rs1471649557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156134936 (GRCh38)
1:156104727 (GRCh37)
Canonical SPDI:: NC_000001.11:156134935:G:A
Gene:: LMNA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.156134936G>A, NC_000001.10:g.156104727G>A, NG_008692.2:g.57364G>A, NM_170707.4:c.771G>A, NM_170707.3:c.771G>A, NM_170708.4:c.771G>A, NM_170708.3:c.771G>A, NM_005572.4:c.771G>A, NM_005572.3:c.771G>A, NM_001257374.3:c.435G>A, NM_001257374.2:c.435G>A, NM_001257374.1:c.435G>A, NM_001282626.2:c.771G>A, NM_001282626.1:c.771G>A, NM_001282625.2:c.771G>A, NM_001282625.1:c.771G>A, NM_001282624.2:c.528G>A, NM_001282624.1:c.528G>A, NM_001406983.1:c.771G>A, NM_001406999.1:c.107G>A, NM_001406986.1:c.528G>A, NM_001406991.1:c.771G>A, NM_001407000.1:c.107G>A, NM_001407001.1:c.107G>A, NM_001406995.1:c.213G>A, NM_001406996.1:c.213G>A, NM_001406987.1:c.528G>A, NM_001406988.1:c.474G>A, NM_001406993.1:c.213G>A, NM_001406997.1:c.213G>A, NM_001406989.1:c.435G>A, NM_001406994.1:c.107G>A, NM_001406985.1:c.771G>A, NM_001406984.1:c.771G>A, NM_001406990.1:c.213G>A, NM_001407002.1:c.213G>A, NM_001406992.1:c.771G>A, NM_001407003.1:c.213G>A, NM_001406998.1:c.435G>A, XM_011509533.2:c.435G>A, NR_047544.1:n.1412G>A, NR_047545.1:n.659G>A, XM_047420430.1:c.771G>A

Select item 147104571110.

rs1471045711 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:156136947 (GRCh38)
1:156106738 (GRCh37)
Canonical SPDI:: NC_000001.11:156136946:C:A,NC_000001.11:156136946:C:T
Gene:: LMNA (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156136947C>A, NC_000001.11:g.156136947C>T, NC_000001.10:g.156106738C>A, NC_000001.10:g.156106738C>T, NG_008692.2:g.59375C>A, NG_008692.2:g.59375C>T, NM_170707.4:c.1407C>A, NM_170707.4:c.1407C>T, NM_170707.3:c.1407C>A, NM_170707.3:c.1407C>T, NM_170708.4:c.1407C>A, NM_170708.4:c.1407C>T, NM_170708.3:c.1407C>A, NM_170708.3:c.1407C>T, NM_005572.4:c.1407C>A, NM_005572.4:c.1407C>T, NM_005572.3:c.1407C>A, NM_005572.3:c.1407C>T, NM_001257374.3:c.1071C>A, NM_001257374.3:c.1071C>T, NM_001257374.2:c.1071C>A, NM_001257374.2:c.1071C>T, NM_001257374.1:c.1071C>A, NM_001257374.1:c.1071C>T, NM_001282626.2:c.1407C>A, NM_001282626.2:c.1407C>T, NM_001282626.1:c.1407C>A, NM_001282626.1:c.1407C>T, NM_001282625.2:c.1407C>A, NM_001282625.2:c.1407C>T, NM_001282625.1:c.1407C>A, NM_001282625.1:c.1407C>T, NM_001282624.2:c.1164C>A, NM_001282624.2:c.1164C>T, NM_001282624.1:c.1164C>A, NM_001282624.1:c.1164C>T, NM_001406983.1:c.1407C>A, NM_001406983.1:c.1407C>T, NM_001406999.1:c.783C>A, NM_001406999.1:c.783C>T, NM_001406986.1:c.1164C>A, NM_001406986.1:c.1164C>T, NM_001406991.1:c.1407C>A, NM_001406991.1:c.1407C>T, NM_001407000.1:c.783C>A, NM_001407000.1:c.783C>T, NM_001407001.1:c.783C>A, NM_001407001.1:c.783C>T, NM_001406995.1:c.849C>A, NM_001406995.1:c.849C>T, NM_001406996.1:c.849C>A, NM_001406996.1:c.849C>T, NM_001406987.1:c.1164C>A, NM_001406987.1:c.1164C>T, NM_001406988.1:c.1110C>A, NM_001406988.1:c.1110C>T, NM_001406993.1:c.849C>A, NM_001406993.1:c.849C>T, NM_001406997.1:c.849C>A, NM_001406997.1:c.849C>T, NM_001406989.1:c.1071C>A, NM_001406989.1:c.1071C>T, NM_001406994.1:c.783C>A, NM_001406994.1:c.783C>T, NM_001406985.1:c.1407C>A, NM_001406985.1:c.1407C>T, NM_001406984.1:c.1407C>A, NM_001406984.1:c.1407C>T, NM_001406990.1:c.849C>A, NM_001406990.1:c.849C>T, NM_001407002.1:c.849C>A, NM_001407002.1:c.849C>T, NM_001406992.1:c.1407C>A, NM_001406992.1:c.1407C>T, NM_001407003.1:c.849C>A, NM_001407003.1:c.849C>T, NM_001406998.1:c.1071C>A, NM_001406998.1:c.1071C>T, XM_011509533.2:c.1071C>A, XM_011509533.2:c.1071C>T, NR_047544.1:n.2048C>A, NR_047544.1:n.2048C>T, NR_047545.1:n.1295C>A, NR_047545.1:n.1295C>T

Select item 146937424911.

rs1469374249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156115260 (GRCh38)
1:156085051 (GRCh37)
Canonical SPDI:: NC_000001.11:156115259:G:A
Gene:: LMNA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.156115260G>A, NC_000001.10:g.156085051G>A, NG_008692.2:g.37688G>A, NM_170707.4:c.342G>A, NM_170707.3:c.342G>A, NM_170708.4:c.342G>A, NM_170708.3:c.342G>A, NM_005572.4:c.342G>A, NM_005572.3:c.342G>A, NM_001282626.2:c.342G>A, NM_001282626.1:c.342G>A, NM_001282625.2:c.342G>A, NM_001282625.1:c.342G>A, NM_001406983.1:c.342G>A, NM_001406999.1:c.-503G>A, NM_001406986.1:c.-82G>A, NM_001406991.1:c.342G>A, NM_001407000.1:c.-323G>A, NM_001407001.1:c.-166G>A, NM_001406995.1:c.-60G>A, NM_001406994.1:c.-323G>A, NM_001406985.1:c.342G>A, NM_001406984.1:c.342G>A, NM_001406990.1:c.-60G>A, NM_001407002.1:c.-60G>A, NM_001406992.1:c.342G>A, NR_047544.1:n.983G>A, XM_047420430.1:c.342G>A

Select item 146620593612.

rs1466205936 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:156136266 (GRCh38)
1:156106057 (GRCh37)
Canonical SPDI:: NC_000001.11:156136265:T:A
Gene:: LMNA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.156136266T>A, NC_000001.10:g.156106057T>A, NG_008692.2:g.58694T>A, NM_170707.4:c.1210T>A, NM_170707.3:c.1210T>A, NM_170708.4:c.1210T>A, NM_170708.3:c.1210T>A, NM_005572.4:c.1210T>A, NM_005572.3:c.1210T>A, NM_001257374.3:c.874T>A, NM_001257374.2:c.874T>A, NM_001257374.1:c.874T>A, NM_001282626.2:c.1210T>A, NM_001282626.1:c.1210T>A, NM_001282625.2:c.1210T>A, NM_001282625.1:c.1210T>A, NM_001282624.2:c.967T>A, NM_001282624.1:c.967T>A, NM_001406983.1:c.1210T>A, NM_001406999.1:c.586T>A, NM_001406986.1:c.967T>A, NM_001406991.1:c.1210T>A, NM_001407000.1:c.586T>A, NM_001407001.1:c.586T>A, NM_001406995.1:c.652T>A, NM_001406996.1:c.652T>A, NM_001406987.1:c.967T>A, NM_001406988.1:c.913T>A, NM_001406993.1:c.652T>A, NM_001406997.1:c.652T>A, NM_001406989.1:c.874T>A, NM_001406994.1:c.586T>A, NM_001406985.1:c.1210T>A, NM_001406984.1:c.1210T>A, NM_001406990.1:c.652T>A, NM_001407002.1:c.652T>A, NM_001406992.1:c.1210T>A, NM_001407003.1:c.652T>A, NM_001406998.1:c.874T>A, XM_011509533.2:c.874T>A, NR_047544.1:n.1851T>A, NR_047545.1:n.1098T>A, NP_733821.1:p.Ser404Thr, NP_733822.1:p.Ser404Thr, NP_005563.1:p.Ser404Thr, NP_001244303.1:p.Ser292Thr, NP_001269555.1:p.Ser404Thr, NP_001269554.1:p.Ser404Thr, NP_001269553.1:p.Ser323Thr, XP_011507835.1:p.Ser292Thr

Select item 146438890613.

rs1464388906 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:156137216 (GRCh38)
1:156107007 (GRCh37)
Canonical SPDI:: NC_000001.11:156137215:T:A
Gene:: LMNA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.156137216T>A, NC_000001.10:g.156107007T>A, NG_008692.2:g.59644T>A, NM_170707.4:c.1592T>A, NM_170707.3:c.1592T>A, NM_170708.4:c.1592T>A, NM_170708.3:c.1592T>A, NM_005572.4:c.1592T>A, NM_005572.3:c.1592T>A, NM_001257374.3:c.1256T>A, NM_001257374.2:c.1256T>A, NM_001257374.1:c.1256T>A, NM_001282626.2:c.1592T>A, NM_001282626.1:c.1592T>A, NM_001282625.2:c.1592T>A, NM_001282625.1:c.1592T>A, NM_001282624.2:c.1349T>A, NM_001282624.1:c.1349T>A, NM_001406983.1:c.1592T>A, NM_001406999.1:c.968T>A, NM_001406986.1:c.1349T>A, NM_001406991.1:c.1592T>A, NM_001407000.1:c.968T>A, NM_001407001.1:c.968T>A, NM_001406995.1:c.1034T>A, NM_001406996.1:c.1034T>A, NM_001406987.1:c.1349T>A, NM_001406988.1:c.1295T>A, NM_001406993.1:c.1034T>A, NM_001406997.1:c.1034T>A, NM_001406989.1:c.1256T>A, NM_001406994.1:c.968T>A, NM_001406985.1:c.1592T>A, NM_001406984.1:c.1592T>A, NM_001406990.1:c.1034T>A, NM_001407002.1:c.1034T>A, NM_001406992.1:c.1592T>A, NM_001407003.1:c.1034T>A, NM_001406998.1:c.1256T>A, XM_011509533.2:c.1256T>A, NR_047544.1:n.2233T>A, NR_047545.1:n.1480T>A, NP_733821.1:p.Ile531Asn, NP_733822.1:p.Ile531Asn, NP_005563.1:p.Ile531Asn, NP_001244303.1:p.Ile419Asn, NP_001269555.1:p.Ile531Asn, NP_001269554.1:p.Ile531Asn, NP_001269553.1:p.Ile450Asn, XP_011507835.1:p.Ile419Asn

Select item 146116595414.

rs1461165954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156114988 (GRCh38)
1:156084779 (GRCh37)
Canonical SPDI:: NC_000001.11:156114987:A:G
Gene:: LMNA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156114988A>G, NC_000001.10:g.156084779A>G, NG_008692.2:g.37416A>G, NM_170707.4:c.70A>G, NM_170707.3:c.70A>G, NM_170708.4:c.70A>G, NM_170708.3:c.70A>G, NM_005572.4:c.70A>G, NM_005572.3:c.70A>G, NM_001282626.2:c.70A>G, NM_001282626.1:c.70A>G, NM_001282625.2:c.70A>G, NM_001282625.1:c.70A>G, NM_001406983.1:c.70A>G, NM_001406999.1:c.-775A>G, NM_001406986.1:c.-354A>G, NM_001406991.1:c.70A>G, NM_001407000.1:c.-595A>G, NM_001407001.1:c.-438A>G, NM_001406995.1:c.-332A>G, NM_001406994.1:c.-595A>G, NM_001406985.1:c.70A>G, NM_001406984.1:c.70A>G, NM_001406990.1:c.-332A>G, NM_001407002.1:c.-332A>G, NM_001406992.1:c.70A>G, NR_047544.1:n.711A>G, XM_047420430.1:c.70A>G, NP_733821.1:p.Thr24Ala, NP_733822.1:p.Thr24Ala, NP_005563.1:p.Thr24Ala, NP_001269555.1:p.Thr24Ala, NP_001269554.1:p.Thr24Ala, XP_047276386.1:p.Thr24Ala

Select item 146063171715.

rs1460631717 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156136378 (GRCh38)
1:156106169 (GRCh37)
Canonical SPDI:: NC_000001.11:156136377:C:T
Gene:: LMNA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000001.11:g.156136378C>T, NC_000001.10:g.156106169C>T, NG_008692.2:g.58806C>T, NM_170707.4:c.1322C>T, NM_170707.3:c.1322C>T, NM_170708.4:c.1322C>T, NM_170708.3:c.1322C>T, NM_005572.4:c.1322C>T, NM_005572.3:c.1322C>T, NM_001257374.3:c.986C>T, NM_001257374.2:c.986C>T, NM_001257374.1:c.986C>T, NM_001282626.2:c.1322C>T, NM_001282626.1:c.1322C>T, NM_001282625.2:c.1322C>T, NM_001282625.1:c.1322C>T, NM_001282624.2:c.1079C>T, NM_001282624.1:c.1079C>T, NM_001406983.1:c.1322C>T, NM_001406999.1:c.698C>T, NM_001406986.1:c.1079C>T, NM_001406991.1:c.1322C>T, NM_001407000.1:c.698C>T, NM_001407001.1:c.698C>T, NM_001406995.1:c.764C>T, NM_001406996.1:c.764C>T, NM_001406987.1:c.1079C>T, NM_001406988.1:c.1025C>T, NM_001406993.1:c.764C>T, NM_001406997.1:c.764C>T, NM_001406989.1:c.986C>T, NM_001406994.1:c.698C>T, NM_001406985.1:c.1322C>T, NM_001406984.1:c.1322C>T, NM_001406990.1:c.764C>T, NM_001407002.1:c.764C>T, NM_001406992.1:c.1322C>T, NM_001407003.1:c.764C>T, NM_001406998.1:c.986C>T, XM_011509533.2:c.986C>T, NR_047544.1:n.1963C>T, NR_047545.1:n.1210C>T, NP_733821.1:p.Ala441Val, NP_733822.1:p.Ala441Val, NP_005563.1:p.Ala441Val, NP_001244303.1:p.Ala329Val, NP_001269555.1:p.Ala441Val, NP_001269554.1:p.Ala441Val, NP_001269553.1:p.Ala360Val, XP_011507835.1:p.Ala329Val

Select item 145854866216.

rs1458548662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:156130747 (GRCh38)
1:156100538 (GRCh37)
Canonical SPDI:: NC_000001.11:156130746:C:A,NC_000001.11:156130746:C:T
Gene:: LMNA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.156130747C>A, NC_000001.11:g.156130747C>T, NC_000001.10:g.156100538C>A, NC_000001.10:g.156100538C>T, NG_008692.2:g.53175C>A, NG_008692.2:g.53175C>T, NM_170707.4:c.487C>A, NM_170707.4:c.487C>T, NM_170707.3:c.487C>A, NM_170707.3:c.487C>T, NM_170708.4:c.487C>A, NM_170708.4:c.487C>T, NM_170708.3:c.487C>A, NM_170708.3:c.487C>T, NM_005572.4:c.487C>A, NM_005572.4:c.487C>T, NM_005572.3:c.487C>A, NM_005572.3:c.487C>T, NM_001257374.3:c.151C>A, NM_001257374.3:c.151C>T, NM_001257374.2:c.151C>A, NM_001257374.2:c.151C>T, NM_001257374.1:c.151C>A, NM_001257374.1:c.151C>T, NM_001282626.2:c.487C>A, NM_001282626.2:c.487C>T, NM_001282626.1:c.487C>A, NM_001282626.1:c.487C>T, NM_001282625.2:c.487C>A, NM_001282625.2:c.487C>T, NM_001282625.1:c.487C>A, NM_001282625.1:c.487C>T, NM_001282624.2:c.244C>A, NM_001282624.2:c.244C>T, NM_001282624.1:c.244C>A, NM_001282624.1:c.244C>T, NM_001406983.1:c.487C>A, NM_001406983.1:c.487C>T, NM_001406999.1:c.-178C>A, NM_001406999.1:c.-178C>T, NM_001406986.1:c.244C>A, NM_001406986.1:c.244C>T, NM_001406991.1:c.487C>A, NM_001406991.1:c.487C>T, NM_001407000.1:c.-178C>A, NM_001407000.1:c.-178C>T, NM_001406996.1:c.-72C>A, NM_001406996.1:c.-72C>T, NM_001406987.1:c.244C>A, NM_001406987.1:c.244C>T, NM_001406988.1:c.190C>A, NM_001406988.1:c.190C>T, NM_001406993.1:c.-72C>A, NM_001406993.1:c.-72C>T, NM_001406997.1:c.-72C>A, NM_001406997.1:c.-72C>T, NM_001406989.1:c.151C>A, NM_001406989.1:c.151C>T, NM_001406994.1:c.-178C>A, NM_001406994.1:c.-178C>T, NM_001406985.1:c.487C>A, NM_001406985.1:c.487C>T, NM_001406984.1:c.487C>A, NM_001406984.1:c.487C>T, NM_001406992.1:c.487C>A, NM_001406992.1:c.487C>T, NM_001407003.1:c.-72C>A, NM_001407003.1:c.-72C>T, NM_001406998.1:c.151C>A, NM_001406998.1:c.151C>T, NG_082201.1:g.946C>A, NG_082201.1:g.946C>T, XM_011509533.2:c.151C>A, XM_011509533.2:c.151C>T, NR_047544.1:n.1128C>A, NR_047544.1:n.1128C>T, NR_047545.1:n.375C>A, NR_047545.1:n.375C>T, XM_047420430.1:c.487C>A, XM_047420430.1:c.487C>T, NP_733821.1:p.His163Asn, NP_733821.1:p.His163Tyr, NP_733822.1:p.His163Asn, NP_733822.1:p.His163Tyr, NP_005563.1:p.His163Asn, NP_005563.1:p.His163Tyr, NP_001244303.1:p.His51Asn, NP_001244303.1:p.His51Tyr, NP_001269555.1:p.His163Asn, NP_001269555.1:p.His163Tyr, NP_001269554.1:p.His163Asn, NP_001269554.1:p.His163Tyr, NP_001269553.1:p.His82Asn, NP_001269553.1:p.His82Tyr, XP_011507835.1:p.His51Asn, XP_011507835.1:p.His51Tyr, XP_047276386.1:p.His163Asn, XP_047276386.1:p.His163Tyr

Select item 145160572917.

rs1451605729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156137708 (GRCh38)
1:156107499 (GRCh37)
Canonical SPDI:: NC_000001.11:156137707:G:A
Gene:: LMNA (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.156137708G>A, NC_000001.10:g.156107499G>A, NG_008692.2:g.60136G>A, NM_170707.4:c.1663G>A, NM_170707.3:c.1663G>A, NM_005572.4:c.1663G>A, NM_005572.3:c.1663G>A, NM_001257374.3:c.1327G>A, NM_001257374.2:c.1327G>A, NM_001257374.1:c.1327G>A, NM_001282626.2:c.1663G>A, NM_001282626.1:c.1663G>A, NM_001282625.2:c.1663G>A, NM_001282625.1:c.1663G>A, NM_001282624.2:c.1420G>A, NM_001282624.1:c.1420G>A, NM_001406983.1:c.1663G>A, NM_001406999.1:c.1039G>A, NM_001406986.1:c.1420G>A, NM_001406991.1:c.1663G>A, NM_001407000.1:c.1039G>A, NM_001407001.1:c.1039G>A, NM_001406995.1:c.1105G>A, NM_001406996.1:c.1105G>A, NM_001406987.1:c.1420G>A, NM_001406988.1:c.1366G>A, NM_001406993.1:c.1105G>A, NM_001406997.1:c.1105G>A, NM_001406989.1:c.1327G>A, NM_001406994.1:c.1039G>A, NM_001406985.1:c.1663G>A, NM_001406984.1:c.1663G>A, NM_001406990.1:c.1105G>A, NM_001407002.1:c.1105G>A, NM_001406992.1:c.1663G>A, NM_001407003.1:c.1105G>A, NM_001406998.1:c.1327G>A, XM_011509533.2:c.1327G>A, NR_047544.1:n.2304G>A, NR_047545.1:n.1551G>A, NP_733821.1:p.Asp555Asn, NP_005563.1:p.Asp555Asn, NP_001244303.1:p.Asp443Asn, NP_001269555.1:p.Asp555Asn, NP_001269554.1:p.Asp555Asn, NP_001269553.1:p.Asp474Asn, XP_011507835.1:p.Asp443Asn

Select item 145029827018.

rs1450298270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156114963 (GRCh38)
1:156084754 (GRCh37)
Canonical SPDI:: NC_000001.11:156114962:G:A
Gene:: LMNA (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.156114963G>A, NC_000001.10:g.156084754G>A, NG_008692.2:g.37391G>A, NM_170707.4:c.45G>A, NM_170707.3:c.45G>A, NM_170708.4:c.45G>A, NM_170708.3:c.45G>A, NM_005572.4:c.45G>A, NM_005572.3:c.45G>A, NM_001282626.2:c.45G>A, NM_001282626.1:c.45G>A, NM_001282625.2:c.45G>A, NM_001282625.1:c.45G>A, NM_001406983.1:c.45G>A, NM_001406999.1:c.-800G>A, NM_001406986.1:c.-379G>A, NM_001406991.1:c.45G>A, NM_001407000.1:c.-620G>A, NM_001407001.1:c.-463G>A, NM_001406995.1:c.-357G>A, NM_001406994.1:c.-620G>A, NM_001406985.1:c.45G>A, NM_001406984.1:c.45G>A, NM_001406990.1:c.-357G>A, NM_001407002.1:c.-357G>A, NM_001406992.1:c.45G>A, NR_047544.1:n.686G>A, XM_047420430.1:c.45G>A

Select item 144968822019.

rs1449688220 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:156136004 (GRCh38)
1:156105795 (GRCh37)
Canonical SPDI:: NC_000001.11:156136003:A:C,NC_000001.11:156136003:A:G
Gene:: LMNA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.156136004A>C, NC_000001.11:g.156136004A>G, NC_000001.10:g.156105795A>C, NC_000001.10:g.156105795A>G, NG_008692.2:g.58432A>C, NG_008692.2:g.58432A>G, NM_170707.4:c.1040A>C, NM_170707.4:c.1040A>G, NM_170707.3:c.1040A>C, NM_170707.3:c.1040A>G, NM_170708.4:c.1040A>C, NM_170708.4:c.1040A>G, NM_170708.3:c.1040A>C, NM_170708.3:c.1040A>G, NM_005572.4:c.1040A>C, NM_005572.4:c.1040A>G, NM_005572.3:c.1040A>C, NM_005572.3:c.1040A>G, NM_001257374.3:c.704A>C, NM_001257374.3:c.704A>G, NM_001257374.2:c.704A>C, NM_001257374.2:c.704A>G, NM_001257374.1:c.704A>C, NM_001257374.1:c.704A>G, NM_001282626.2:c.1040A>C, NM_001282626.2:c.1040A>G, NM_001282626.1:c.1040A>C, NM_001282626.1:c.1040A>G, NM_001282625.2:c.1040A>C, NM_001282625.2:c.1040A>G, NM_001282625.1:c.1040A>C, NM_001282625.1:c.1040A>G, NM_001282624.2:c.797A>C, NM_001282624.2:c.797A>G, NM_001282624.1:c.797A>C, NM_001282624.1:c.797A>G, NM_001406983.1:c.1040A>C, NM_001406983.1:c.1040A>G, NM_001406999.1:c.416A>C, NM_001406999.1:c.416A>G, NM_001406986.1:c.797A>C, NM_001406986.1:c.797A>G, NM_001406991.1:c.1040A>C, NM_001406991.1:c.1040A>G, NM_001407000.1:c.416A>C, NM_001407000.1:c.416A>G, NM_001407001.1:c.416A>C, NM_001407001.1:c.416A>G, NM_001406995.1:c.482A>C, NM_001406995.1:c.482A>G, NM_001406996.1:c.482A>C, NM_001406996.1:c.482A>G, NM_001406987.1:c.797A>C, NM_001406987.1:c.797A>G, NM_001406988.1:c.743A>C, NM_001406988.1:c.743A>G, NM_001406993.1:c.482A>C, NM_001406993.1:c.482A>G, NM_001406997.1:c.482A>C, NM_001406997.1:c.482A>G, NM_001406989.1:c.704A>C, NM_001406989.1:c.704A>G, NM_001406994.1:c.416A>C, NM_001406994.1:c.416A>G, NM_001406985.1:c.1040A>C, NM_001406985.1:c.1040A>G, NM_001406984.1:c.1040A>C, NM_001406984.1:c.1040A>G, NM_001406990.1:c.482A>C, NM_001406990.1:c.482A>G, NM_001407002.1:c.482A>C, NM_001407002.1:c.482A>G, NM_001406992.1:c.1040A>C, NM_001406992.1:c.1040A>G, NM_001407003.1:c.482A>C, NM_001407003.1:c.482A>G, NM_001406998.1:c.704A>C, NM_001406998.1:c.704A>G, XM_011509533.2:c.704A>C, XM_011509533.2:c.704A>G, NR_047544.1:n.1681A>C, NR_047544.1:n.1681A>G, NR_047545.1:n.928A>C, NR_047545.1:n.928A>G, XM_047420430.1:c.*51A>C, XM_047420430.1:c.*51A>G, NP_733821.1:p.Glu347Ala, NP_733821.1:p.Glu347Gly, NP_733822.1:p.Glu347Ala, NP_733822.1:p.Glu347Gly, NP_005563.1:p.Glu347Ala, NP_005563.1:p.Glu347Gly, NP_001244303.1:p.Glu235Ala, NP_001244303.1:p.Glu235Gly, NP_001269555.1:p.Glu347Ala, NP_001269555.1:p.Glu347Gly, NP_001269554.1:p.Glu347Ala, NP_001269554.1:p.Glu347Gly, NP_001269553.1:p.Glu266Ala, NP_001269553.1:p.Glu266Gly, XP_011507835.1:p.Glu235Ala, XP_011507835.1:p.Glu235Gly

Select item 144951809020.

rs1449518090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156137004 (GRCh38)
1:156106795 (GRCh37)
Canonical SPDI:: NC_000001.11:156137003:C:T
Gene:: LMNA (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.156137004C>T, NC_000001.10:g.156106795C>T, NG_008692.2:g.59432C>T, NM_170707.4:c.1464C>T, NM_170707.3:c.1464C>T, NM_170708.4:c.1464C>T, NM_170708.3:c.1464C>T, NM_005572.4:c.1464C>T, NM_005572.3:c.1464C>T, NM_001257374.3:c.1128C>T, NM_001257374.2:c.1128C>T, NM_001257374.1:c.1128C>T, NM_001282626.2:c.1464C>T, NM_001282626.1:c.1464C>T, NM_001282625.2:c.1464C>T, NM_001282625.1:c.1464C>T, NM_001282624.2:c.1221C>T, NM_001282624.1:c.1221C>T, NM_001406983.1:c.1464C>T, NM_001406999.1:c.840C>T, NM_001406986.1:c.1221C>T, NM_001406991.1:c.1464C>T, NM_001407000.1:c.840C>T, NM_001407001.1:c.840C>T, NM_001406995.1:c.906C>T, NM_001406996.1:c.906C>T, NM_001406987.1:c.1221C>T, NM_001406988.1:c.1167C>T, NM_001406993.1:c.906C>T, NM_001406997.1:c.906C>T, NM_001406989.1:c.1128C>T, NM_001406994.1:c.840C>T, NM_001406985.1:c.1464C>T, NM_001406984.1:c.1464C>T, NM_001406990.1:c.906C>T, NM_001407002.1:c.906C>T, NM_001406992.1:c.1464C>T, NM_001407003.1:c.906C>T, NM_001406998.1:c.1128C>T, XM_011509533.2:c.1128C>T, NR_047544.1:n.2105C>T, NR_047545.1:n.1352C>T

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