SNP Links for Protein (Select 1034645576) - SNP

Links from Protein

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Select item 14889915021.

rs1488991502 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:80960761 (GRCh38)
5:80256580 (GRCh37)
Canonical SPDI:: NC_000005.10:80960760:A:G
Gene:: RASGRF2 (Varview), RASGRF2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.80960761A>G, NC_000005.9:g.80256580A>G, NG_030334.1:g.5073A>G, NM_006909.3:c.23A>G, NM_006909.2:c.23A>G, XM_005248565.2:c.23A>G, XM_005248565.1:c.23A>G, XM_017009683.2:c.23A>G, XM_017009683.1:c.23A>G, NP_008840.1:p.Asn8Ser, XP_005248622.1:p.Asn8Ser, XP_016865172.1:p.Asn8Ser

Select item 14888480172.

rs1488848017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:81094913 (GRCh38)
5:80390732 (GRCh37)
Canonical SPDI:: NC_000005.10:81094912:C:T
Gene:: RASGRF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.81094913C>T, NC_000005.9:g.80390732C>T, NG_030334.1:g.139225C>T, NM_006909.3:c.1676C>T, NM_006909.2:c.1676C>T, XM_005248565.2:c.1676C>T, XM_005248565.1:c.1676C>T, XM_017009683.2:c.1676C>T, XM_017009683.1:c.1676C>T, XM_047417465.1:c.1247C>T, XM_047417463.1:c.1304C>T, XM_047417464.1:c.1304C>T, XM_047417466.1:c.1247C>T, NP_008840.1:p.Pro559Leu, XP_005248622.1:p.Pro559Leu, XP_016865172.1:p.Pro559Leu, XP_047273421.1:p.Pro416Leu, XP_047273419.1:p.Pro435Leu, XP_047273420.1:p.Pro435Leu, XP_047273422.1:p.Pro416Leu

Select item 14887870303.

rs1488787030 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:81112657 (GRCh38)
5:80408476 (GRCh37)
Canonical SPDI:: NC_000005.10:81112656:A:G
Gene:: RASGRF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81112657A>G, NC_000005.9:g.80408476A>G, NG_030334.1:g.156969A>G, NM_006909.3:c.1886A>G, NM_006909.2:c.1886A>G, XM_005248565.2:c.1886A>G, XM_005248565.1:c.1886A>G, XM_017009683.2:c.1886A>G, XM_017009683.1:c.1886A>G, XM_047417465.1:c.1457A>G, XM_047417463.1:c.1514A>G, XM_047417464.1:c.1514A>G, XM_047417466.1:c.1457A>G, NP_008840.1:p.Lys629Arg, XP_005248622.1:p.Lys629Arg, XP_016865172.1:p.Lys629Arg, XP_047273421.1:p.Lys486Arg, XP_047273419.1:p.Lys505Arg, XP_047273420.1:p.Lys505Arg, XP_047273422.1:p.Lys486Arg

Select item 14878732614.

rs1487873261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:81112672 (GRCh38)
5:80408491 (GRCh37)
Canonical SPDI:: NC_000005.10:81112671:G:A,NC_000005.10:81112671:G:C
Gene:: RASGRF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81112672G>A, NC_000005.10:g.81112672G>C, NC_000005.9:g.80408491G>A, NC_000005.9:g.80408491G>C, NG_030334.1:g.156984G>A, NG_030334.1:g.156984G>C, NM_006909.3:c.1901G>A, NM_006909.3:c.1901G>C, NM_006909.2:c.1901G>A, NM_006909.2:c.1901G>C, XM_005248565.2:c.1901G>A, XM_005248565.2:c.1901G>C, XM_005248565.1:c.1901G>A, XM_005248565.1:c.1901G>C, XM_017009683.2:c.1901G>A, XM_017009683.2:c.1901G>C, XM_017009683.1:c.1901G>A, XM_017009683.1:c.1901G>C, XM_047417465.1:c.1472G>A, XM_047417465.1:c.1472G>C, XM_047417463.1:c.1529G>A, XM_047417463.1:c.1529G>C, XM_047417464.1:c.1529G>A, XM_047417464.1:c.1529G>C, XM_047417466.1:c.1472G>A, XM_047417466.1:c.1472G>C, NP_008840.1:p.Cys634Tyr, NP_008840.1:p.Cys634Ser, XP_005248622.1:p.Cys634Tyr, XP_005248622.1:p.Cys634Ser, XP_016865172.1:p.Cys634Tyr, XP_016865172.1:p.Cys634Ser, XP_047273421.1:p.Cys491Tyr, XP_047273421.1:p.Cys491Ser, XP_047273419.1:p.Cys510Tyr, XP_047273419.1:p.Cys510Ser, XP_047273420.1:p.Cys510Tyr, XP_047273420.1:p.Cys510Ser, XP_047273422.1:p.Cys491Tyr, XP_047273422.1:p.Cys491Ser

Select item 14833474735.

rs1483347473 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:80961019 (GRCh38)
5:80256838 (GRCh37)
Canonical SPDI:: NC_000005.10:80961018:A:G
Gene:: RASGRF2 (Varview), RASGRF2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.80961019A>G, NC_000005.9:g.80256838A>G, NG_030334.1:g.5331A>G, NM_006909.3:c.281A>G, NM_006909.2:c.281A>G, XM_005248565.2:c.281A>G, XM_005248565.1:c.281A>G, XM_017009683.2:c.281A>G, XM_017009683.1:c.281A>G, NP_008840.1:p.Asp94Gly, XP_005248622.1:p.Asp94Gly, XP_016865172.1:p.Asp94Gly

Select item 14832575846.

rs1483257584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:81073271 (GRCh38)
5:80369090 (GRCh37)
Canonical SPDI:: NC_000005.10:81073270:C:G
Gene:: RASGRF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81073271C>G, NC_000005.9:g.80369090C>G, NG_030334.1:g.117583C>G, NM_006909.3:c.706C>G, NM_006909.2:c.706C>G, XM_005248565.2:c.706C>G, XM_005248565.1:c.706C>G, XM_017009683.2:c.706C>G, XM_017009683.1:c.706C>G, XM_047417465.1:c.277C>G, XM_047417463.1:c.334C>G, XM_047417464.1:c.334C>G, XM_047417466.1:c.277C>G, NP_008840.1:p.Pro236Ala, XP_005248622.1:p.Pro236Ala, XP_016865172.1:p.Pro236Ala, XP_047273421.1:p.Pro93Ala, XP_047273419.1:p.Pro112Ala, XP_047273420.1:p.Pro112Ala, XP_047273422.1:p.Pro93Ala

Select item 14827592047.

rs1482759204 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:81092901 (GRCh38)
5:80388720 (GRCh37)
Canonical SPDI:: NC_000005.10:81092900:A:T
Gene:: RASGRF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.81092901A>T, NC_000005.9:g.80388720A>T, NG_030334.1:g.137213A>T, NM_006909.3:c.1491A>T, NM_006909.2:c.1491A>T, XM_005248565.2:c.1491A>T, XM_005248565.1:c.1491A>T, XM_017009683.2:c.1491A>T, XM_017009683.1:c.1491A>T, XM_047417465.1:c.1062A>T, XM_047417463.1:c.1119A>T, XM_047417464.1:c.1119A>T, XM_047417466.1:c.1062A>T, NP_008840.1:p.Leu497Phe, XP_005248622.1:p.Leu497Phe, XP_016865172.1:p.Leu497Phe, XP_047273421.1:p.Leu354Phe, XP_047273419.1:p.Leu373Phe, XP_047273420.1:p.Leu373Phe, XP_047273422.1:p.Leu354Phe

Select item 14817571738.

rs1481757173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:81094908 (GRCh38)
5:80390727 (GRCh37)
Canonical SPDI:: NC_000005.10:81094907:G:T
Gene:: RASGRF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.81094908G>T, NC_000005.9:g.80390727G>T, NG_030334.1:g.139220G>T, NM_006909.3:c.1671G>T, NM_006909.2:c.1671G>T, XM_005248565.2:c.1671G>T, XM_005248565.1:c.1671G>T, XM_017009683.2:c.1671G>T, XM_017009683.1:c.1671G>T, XM_047417465.1:c.1242G>T, XM_047417463.1:c.1299G>T, XM_047417464.1:c.1299G>T, XM_047417466.1:c.1242G>T, NP_008840.1:p.Glu557Asp, XP_005248622.1:p.Glu557Asp, XP_016865172.1:p.Glu557Asp, XP_047273421.1:p.Glu414Asp, XP_047273419.1:p.Glu433Asp, XP_047273420.1:p.Glu433Asp, XP_047273422.1:p.Glu414Asp

Select item 14815932309.

rs1481593230 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:81113870 (GRCh38)
5:80409689 (GRCh37)
Canonical SPDI:: NC_000005.10:81113869:A:G
Gene:: RASGRF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.81113870A>G, NC_000005.9:g.80409689A>G, NG_030334.1:g.158182A>G, NM_006909.3:c.2420A>G, NM_006909.2:c.2420A>G, XM_005248565.2:c.2420A>G, XM_005248565.1:c.2420A>G, XM_017009683.2:c.2420A>G, XM_017009683.1:c.2420A>G, XM_047417465.1:c.1991A>G, XM_047417463.1:c.2048A>G, XM_047417464.1:c.2048A>G, XM_047417466.1:c.1991A>G, NP_008840.1:p.Asp807Gly, XP_005248622.1:p.Asp807Gly, XP_016865172.1:p.Asp807Gly, XP_047273421.1:p.Asp664Gly, XP_047273419.1:p.Asp683Gly, XP_047273420.1:p.Asp683Gly, XP_047273422.1:p.Asp664Gly

Select item 147815427510.

rs1478154275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:81113551 (GRCh38)
5:80409370 (GRCh37)
Canonical SPDI:: NC_000005.10:81113550:T:C
Gene:: RASGRF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81113551T>C, NC_000005.9:g.80409370T>C, NG_030334.1:g.157863T>C, NM_006909.3:c.2101T>C, NM_006909.2:c.2101T>C, XM_005248565.2:c.2101T>C, XM_005248565.1:c.2101T>C, XM_017009683.2:c.2101T>C, XM_017009683.1:c.2101T>C, XM_047417465.1:c.1672T>C, XM_047417463.1:c.1729T>C, XM_047417464.1:c.1729T>C, XM_047417466.1:c.1672T>C, NP_008840.1:p.Phe701Leu, XP_005248622.1:p.Phe701Leu, XP_016865172.1:p.Phe701Leu, XP_047273421.1:p.Phe558Leu, XP_047273419.1:p.Phe577Leu, XP_047273420.1:p.Phe577Leu, XP_047273422.1:p.Phe558Leu

Select item 147813284211.

rs1478132842 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:81113811 (GRCh38)
5:80409630 (GRCh37)
Canonical SPDI:: NC_000005.10:81113810:T:C
Gene:: RASGRF2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81113811T>C, NC_000005.9:g.80409630T>C, NG_030334.1:g.158123T>C, NM_006909.3:c.2361T>C, NM_006909.2:c.2361T>C, XM_005248565.2:c.2361T>C, XM_005248565.1:c.2361T>C, XM_017009683.2:c.2361T>C, XM_017009683.1:c.2361T>C, XM_047417465.1:c.1932T>C, XM_047417463.1:c.1989T>C, XM_047417464.1:c.1989T>C, XM_047417466.1:c.1932T>C

Select item 147609534812.

rs1476095348 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:81085881 (GRCh38)
5:80381700 (GRCh37)
Canonical SPDI:: NC_000005.10:81085880:T:C
Gene:: RASGRF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.81085881T>C, NC_000005.9:g.80381700T>C, NG_030334.1:g.130193T>C, NM_006909.3:c.1241T>C, NM_006909.2:c.1241T>C, XM_005248565.2:c.1241T>C, XM_005248565.1:c.1241T>C, XM_017009683.2:c.1241T>C, XM_017009683.1:c.1241T>C, XM_047417465.1:c.812T>C, XM_047417463.1:c.869T>C, XM_047417464.1:c.869T>C, XM_047417466.1:c.812T>C, NP_008840.1:p.Phe414Ser, XP_005248622.1:p.Phe414Ser, XP_016865172.1:p.Phe414Ser, XP_047273421.1:p.Phe271Ser, XP_047273419.1:p.Phe290Ser, XP_047273420.1:p.Phe290Ser, XP_047273422.1:p.Phe271Ser

Select item 147604355413.

rs1476043554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:81073408 (GRCh38)
5:80369227 (GRCh37)
Canonical SPDI:: NC_000005.10:81073407:G:A,NC_000005.10:81073407:G:C
Gene:: RASGRF2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.81073408G>A, NC_000005.10:g.81073408G>C, NC_000005.9:g.80369227G>A, NC_000005.9:g.80369227G>C, NG_030334.1:g.117720G>A, NG_030334.1:g.117720G>C, NM_006909.3:c.843G>A, NM_006909.3:c.843G>C, NM_006909.2:c.843G>A, NM_006909.2:c.843G>C, XM_005248565.2:c.843G>A, XM_005248565.2:c.843G>C, XM_005248565.1:c.843G>A, XM_005248565.1:c.843G>C, XM_017009683.2:c.843G>A, XM_017009683.2:c.843G>C, XM_017009683.1:c.843G>A, XM_017009683.1:c.843G>C, XM_047417465.1:c.414G>A, XM_047417465.1:c.414G>C, XM_047417463.1:c.471G>A, XM_047417463.1:c.471G>C, XM_047417464.1:c.471G>A, XM_047417464.1:c.471G>C, XM_047417466.1:c.414G>A, XM_047417466.1:c.414G>C, NP_008840.1:p.Lys281Asn, XP_005248622.1:p.Lys281Asn, XP_016865172.1:p.Lys281Asn, XP_047273421.1:p.Lys138Asn, XP_047273419.1:p.Lys157Asn, XP_047273420.1:p.Lys157Asn, XP_047273422.1:p.Lys138Asn

Select item 147248987214.

rs1472489872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:80961007 (GRCh38)
5:80256826 (GRCh37)
Canonical SPDI:: NC_000005.10:80961006:G:A,NC_000005.10:80961006:G:T
Gene:: RASGRF2 (Varview), RASGRF2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.80961007G>A, NC_000005.10:g.80961007G>T, NC_000005.9:g.80256826G>A, NC_000005.9:g.80256826G>T, NG_030334.1:g.5319G>A, NG_030334.1:g.5319G>T, NM_006909.3:c.269G>A, NM_006909.3:c.269G>T, NM_006909.2:c.269G>A, NM_006909.2:c.269G>T, XM_005248565.2:c.269G>A, XM_005248565.2:c.269G>T, XM_005248565.1:c.269G>A, XM_005248565.1:c.269G>T, XM_017009683.2:c.269G>A, XM_017009683.2:c.269G>T, XM_017009683.1:c.269G>A, XM_017009683.1:c.269G>T, NP_008840.1:p.Arg90Gln, NP_008840.1:p.Arg90Leu, XP_005248622.1:p.Arg90Gln, XP_005248622.1:p.Arg90Leu, XP_016865172.1:p.Arg90Gln, XP_016865172.1:p.Arg90Leu

Select item 147241394115.

rs1472413941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:81127112 (GRCh38)
5:80422931 (GRCh37)
Canonical SPDI:: NC_000005.10:81127111:G:A
Gene:: RASGRF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81127112G>A, NC_000005.9:g.80422931G>A, NG_030334.1:g.171424G>A, NM_006909.3:c.2635G>A, NM_006909.2:c.2635G>A, XM_005248565.2:c.2635G>A, XM_005248565.1:c.2635G>A, XM_017009683.2:c.2635G>A, XM_017009683.1:c.2635G>A, XM_047417465.1:c.2206G>A, XM_047417463.1:c.2263G>A, XM_047417464.1:c.2263G>A, XM_047417466.1:c.2206G>A, NP_008840.1:p.Ala879Thr, XP_005248622.1:p.Ala879Thr, XP_016865172.1:p.Ala879Thr, XP_047273421.1:p.Ala736Thr, XP_047273419.1:p.Ala755Thr, XP_047273420.1:p.Ala755Thr, XP_047273422.1:p.Ala736Thr

Select item 147184429316.

rs1471844293 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:81080162 (GRCh38)
5:80375981 (GRCh37)
Canonical SPDI:: NC_000005.10:81080161:T:C
Gene:: RASGRF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81080162T>C, NC_000005.9:g.80375981T>C, NG_030334.1:g.124474T>C, NM_006909.3:c.929T>C, NM_006909.2:c.929T>C, XM_005248565.2:c.929T>C, XM_005248565.1:c.929T>C, XM_017009683.2:c.929T>C, XM_017009683.1:c.929T>C, XM_047417465.1:c.500T>C, XM_047417463.1:c.557T>C, XM_047417464.1:c.557T>C, XM_047417466.1:c.500T>C, NP_008840.1:p.Leu310Pro, XP_005248622.1:p.Leu310Pro, XP_016865172.1:p.Leu310Pro, XP_047273421.1:p.Leu167Pro, XP_047273419.1:p.Leu186Pro, XP_047273420.1:p.Leu186Pro, XP_047273422.1:p.Leu167Pro

Select item 146974464417.

rs1469744644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:81094888 (GRCh38)
5:80390707 (GRCh37)
Canonical SPDI:: NC_000005.10:81094887:G:T
Gene:: RASGRF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.81094888G>T, NC_000005.9:g.80390707G>T, NG_030334.1:g.139200G>T, NM_006909.3:c.1651G>T, NM_006909.2:c.1651G>T, XM_005248565.2:c.1651G>T, XM_005248565.1:c.1651G>T, XM_017009683.2:c.1651G>T, XM_017009683.1:c.1651G>T, XM_047417465.1:c.1222G>T, XM_047417463.1:c.1279G>T, XM_047417464.1:c.1279G>T, XM_047417466.1:c.1222G>T, NP_008840.1:p.Asp551Tyr, XP_005248622.1:p.Asp551Tyr, XP_016865172.1:p.Asp551Tyr, XP_047273421.1:p.Asp408Tyr, XP_047273419.1:p.Asp427Tyr, XP_047273420.1:p.Asp427Tyr, XP_047273422.1:p.Asp408Tyr

Select item 146895369818.

rs1468953698 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:81080684 (GRCh38)
5:80376503 (GRCh37)
Canonical SPDI:: NC_000005.10:81080683:T:C,NC_000005.10:81080683:T:G
Gene:: RASGRF2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.81080684T>C, NC_000005.10:g.81080684T>G, NC_000005.9:g.80376503T>C, NC_000005.9:g.80376503T>G, NG_030334.1:g.124996T>C, NG_030334.1:g.124996T>G, NM_006909.3:c.1056T>C, NM_006909.3:c.1056T>G, NM_006909.2:c.1056T>C, NM_006909.2:c.1056T>G, XM_005248565.2:c.1056T>C, XM_005248565.2:c.1056T>G, XM_005248565.1:c.1056T>C, XM_005248565.1:c.1056T>G, XM_017009683.2:c.1056T>C, XM_017009683.2:c.1056T>G, XM_017009683.1:c.1056T>C, XM_017009683.1:c.1056T>G, XM_047417465.1:c.627T>C, XM_047417465.1:c.627T>G, XM_047417463.1:c.684T>C, XM_047417463.1:c.684T>G, XM_047417464.1:c.684T>C, XM_047417464.1:c.684T>G, XM_047417466.1:c.627T>C, XM_047417466.1:c.627T>G, NP_008840.1:p.Asn352Lys, XP_005248622.1:p.Asn352Lys, XP_016865172.1:p.Asn352Lys, XP_047273421.1:p.Asn209Lys, XP_047273419.1:p.Asn228Lys, XP_047273420.1:p.Asn228Lys, XP_047273422.1:p.Asn209Lys

Select item 146763029219.

rs1467630292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:81086953 (GRCh38)
5:80382772 (GRCh37)
Canonical SPDI:: NC_000005.10:81086952:G:A
Gene:: RASGRF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81086953G>A, NC_000005.9:g.80382772G>A, NG_030334.1:g.131265G>A, NM_006909.3:c.1390G>A, NM_006909.2:c.1390G>A, XM_005248565.2:c.1390G>A, XM_005248565.1:c.1390G>A, XM_017009683.2:c.1390G>A, XM_017009683.1:c.1390G>A, XM_047417465.1:c.961G>A, XM_047417463.1:c.1018G>A, XM_047417464.1:c.1018G>A, XM_047417466.1:c.961G>A, NP_008840.1:p.Gly464Ser, XP_005248622.1:p.Gly464Ser, XP_016865172.1:p.Gly464Ser, XP_047273421.1:p.Gly321Ser, XP_047273419.1:p.Gly340Ser, XP_047273420.1:p.Gly340Ser, XP_047273422.1:p.Gly321Ser

Select item 146615152020.

rs1466151520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:81094356 (GRCh38)
5:80390175 (GRCh37)
Canonical SPDI:: NC_000005.10:81094355:G:A
Gene:: RASGRF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000005.10:g.81094356G>A, NC_000005.9:g.80390175G>A, NG_030334.1:g.138668G>A, NM_006909.3:c.1612G>A, NM_006909.2:c.1612G>A, XM_005248565.2:c.1612G>A, XM_005248565.1:c.1612G>A, XM_017009683.2:c.1612G>A, XM_017009683.1:c.1612G>A, XM_047417465.1:c.1183G>A, XM_047417463.1:c.1240G>A, XM_047417464.1:c.1240G>A, XM_047417466.1:c.1183G>A, NP_008840.1:p.Asp538Asn, XP_005248622.1:p.Asp538Asn, XP_016865172.1:p.Asp538Asn, XP_047273421.1:p.Asp395Asn, XP_047273419.1:p.Asp414Asn, XP_047273420.1:p.Asp414Asn, XP_047273422.1:p.Asp395Asn

dbSNP

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