SNP Links for Protein (Select 1034555427) - SNP

Select item 14907171981.

rs1490717198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:74571728 (GRCh38)
1:75037412 (GRCh37)
Canonical SPDI:: NC_000001.11:74571727:T:C
Gene:: ERICH3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.74571728T>C, NC_000001.10:g.75037412T>C, NM_001002912.5:c.3982A>G, NM_001002912.4:c.3982A>G, XM_017000279.3:c.1756A>G, XM_017000279.2:c.1756A>G, XM_017000279.1:c.1756A>G, XM_017000283.3:c.1756A>G, XM_017000283.2:c.1756A>G, XM_017000283.1:c.1756A>G, XM_017000280.3:c.1756A>G, XM_017000280.2:c.1756A>G, XM_017000280.1:c.1756A>G, XM_017000285.3:c.1756A>G, XM_017000285.2:c.1756A>G, XM_017000285.1:c.1756A>G, XM_017000275.2:c.3976A>G, XM_017000275.1:c.3976A>G, XM_017000278.2:c.1756A>G, XM_017000278.1:c.1756A>G, XM_017000282.2:c.1756A>G, XM_017000282.1:c.1756A>G, XM_017000276.2:c.1936A>G, XM_017000276.1:c.1936A>G, XM_017000277.2:c.1894A>G, XM_017000277.1:c.1894A>G, XM_047445349.1:c.1756A>G, NP_001002912.4:p.Lys1328Glu, XP_016855768.1:p.Lys586Glu, XP_016855772.1:p.Lys586Glu, XP_016855769.1:p.Lys586Glu, XP_016855774.1:p.Lys586Glu, XP_016855764.1:p.Lys1326Glu, XP_016855767.1:p.Lys586Glu, XP_016855771.1:p.Lys586Glu, XP_016855765.1:p.Lys646Glu, XP_016855766.1:p.Lys632Glu, XP_047301305.1:p.Lys586Glu

Select item 14902367122.

rs1490236712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:74572661 (GRCh38)
1:75038345 (GRCh37)
Canonical SPDI:: NC_000001.11:74572660:T:A
Gene:: ERICH3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.74572661T>A, NC_000001.10:g.75038345T>A, NM_001002912.5:c.3049A>T, NM_001002912.4:c.3049A>T, XM_017000279.3:c.823A>T, XM_017000279.2:c.823A>T, XM_017000279.1:c.823A>T, XM_017000283.3:c.823A>T, XM_017000283.2:c.823A>T, XM_017000283.1:c.823A>T, XM_017000280.3:c.823A>T, XM_017000280.2:c.823A>T, XM_017000280.1:c.823A>T, XM_017000285.3:c.823A>T, XM_017000285.2:c.823A>T, XM_017000285.1:c.823A>T, XM_017000275.2:c.3043A>T, XM_017000275.1:c.3043A>T, XM_017000278.2:c.823A>T, XM_017000278.1:c.823A>T, XM_017000282.2:c.823A>T, XM_017000282.1:c.823A>T, XM_017000276.2:c.1003A>T, XM_017000276.1:c.1003A>T, XM_017000277.2:c.961A>T, XM_017000277.1:c.961A>T, XM_047445349.1:c.823A>T, NP_001002912.4:p.Ser1017Cys, XP_016855768.1:p.Ser275Cys, XP_016855772.1:p.Ser275Cys, XP_016855769.1:p.Ser275Cys, XP_016855774.1:p.Ser275Cys, XP_016855764.1:p.Ser1015Cys, XP_016855767.1:p.Ser275Cys, XP_016855771.1:p.Ser275Cys, XP_016855765.1:p.Ser335Cys, XP_016855766.1:p.Ser321Cys, XP_047301305.1:p.Ser275Cys

Select item 14894360183.

rs1489436018 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:74571785 (GRCh38)
1:75037469 (GRCh37)
Canonical SPDI:: NC_000001.11:74571784:T:C
Gene:: ERICH3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.74571785T>C, NC_000001.10:g.75037469T>C, NM_001002912.5:c.3925A>G, NM_001002912.4:c.3925A>G, XM_017000279.3:c.1699A>G, XM_017000279.2:c.1699A>G, XM_017000279.1:c.1699A>G, XM_017000283.3:c.1699A>G, XM_017000283.2:c.1699A>G, XM_017000283.1:c.1699A>G, XM_017000280.3:c.1699A>G, XM_017000280.2:c.1699A>G, XM_017000280.1:c.1699A>G, XM_017000285.3:c.1699A>G, XM_017000285.2:c.1699A>G, XM_017000285.1:c.1699A>G, XM_017000275.2:c.3919A>G, XM_017000275.1:c.3919A>G, XM_017000278.2:c.1699A>G, XM_017000278.1:c.1699A>G, XM_017000282.2:c.1699A>G, XM_017000282.1:c.1699A>G, XM_017000276.2:c.1879A>G, XM_017000276.1:c.1879A>G, XM_017000277.2:c.1837A>G, XM_017000277.1:c.1837A>G, XM_047445349.1:c.1699A>G, NP_001002912.4:p.Met1309Val, XP_016855768.1:p.Met567Val, XP_016855772.1:p.Met567Val, XP_016855769.1:p.Met567Val, XP_016855774.1:p.Met567Val, XP_016855764.1:p.Met1307Val, XP_016855767.1:p.Met567Val, XP_016855771.1:p.Met567Val, XP_016855765.1:p.Met627Val, XP_016855766.1:p.Met613Val, XP_047301305.1:p.Met567Val

Select item 14877752274.

rs1487775227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:74571795 (GRCh38)
1:75037479 (GRCh37)
Canonical SPDI:: NC_000001.11:74571794:C:A
Gene:: ERICH3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.74571795C>A, NC_000001.10:g.75037479C>A, NM_001002912.5:c.3915G>T, NM_001002912.4:c.3915G>T, XM_017000279.3:c.1689G>T, XM_017000279.2:c.1689G>T, XM_017000279.1:c.1689G>T, XM_017000283.3:c.1689G>T, XM_017000283.2:c.1689G>T, XM_017000283.1:c.1689G>T, XM_017000280.3:c.1689G>T, XM_017000280.2:c.1689G>T, XM_017000280.1:c.1689G>T, XM_017000285.3:c.1689G>T, XM_017000285.2:c.1689G>T, XM_017000285.1:c.1689G>T, XM_017000275.2:c.3909G>T, XM_017000275.1:c.3909G>T, XM_017000278.2:c.1689G>T, XM_017000278.1:c.1689G>T, XM_017000282.2:c.1689G>T, XM_017000282.1:c.1689G>T, XM_017000276.2:c.1869G>T, XM_017000276.1:c.1869G>T, XM_017000277.2:c.1827G>T, XM_017000277.1:c.1827G>T, XM_047445349.1:c.1689G>T, NP_001002912.4:p.Glu1305Asp, XP_016855768.1:p.Glu563Asp, XP_016855772.1:p.Glu563Asp, XP_016855769.1:p.Glu563Asp, XP_016855774.1:p.Glu563Asp, XP_016855764.1:p.Glu1303Asp, XP_016855767.1:p.Glu563Asp, XP_016855771.1:p.Glu563Asp, XP_016855765.1:p.Glu623Asp, XP_016855766.1:p.Glu609Asp, XP_047301305.1:p.Glu563Asp

Select item 14871943675.

rs1487194367 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:74646755 (GRCh38)
1:75112439 (GRCh37)
Canonical SPDI:: NC_000001.11:74646754:T:A
Gene:: ERICH3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.74646755T>A, NC_000001.10:g.75112439T>A, NM_001002912.5:c.155A>T, NM_001002912.4:c.155A>T, XM_017000275.2:c.149A>T, XM_017000275.1:c.149A>T, NP_001002912.4:p.Tyr52Phe, XP_016855764.1:p.Tyr50Phe

Select item 14865285386.

rs1486528538 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:74589875 (GRCh38)
1:75055559 (GRCh37)
Canonical SPDI:: NC_000001.11:74589874:A:G
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.74589875A>G, NC_000001.10:g.75055559A>G, NM_001002912.5:c.1932T>C, NM_001002912.4:c.1932T>C, XM_017000275.2:c.1926T>C, XM_017000275.1:c.1926T>C, NR_121670.1:n.141A>G

Select item 14858813257.

rs1485881325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:74571626 (GRCh38)
1:75037310 (GRCh37)
Canonical SPDI:: NC_000001.11:74571625:C:A,NC_000001.11:74571625:C:T
Gene:: ERICH3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.74571626C>A, NC_000001.11:g.74571626C>T, NC_000001.10:g.75037310C>A, NC_000001.10:g.75037310C>T, NM_001002912.5:c.4084G>T, NM_001002912.5:c.4084G>A, NM_001002912.4:c.4084G>T, NM_001002912.4:c.4084G>A, XM_017000279.3:c.1858G>T, XM_017000279.3:c.1858G>A, XM_017000279.2:c.1858G>T, XM_017000279.2:c.1858G>A, XM_017000279.1:c.1858G>T, XM_017000279.1:c.1858G>A, XM_017000283.3:c.1858G>T, XM_017000283.3:c.1858G>A, XM_017000283.2:c.1858G>T, XM_017000283.2:c.1858G>A, XM_017000283.1:c.1858G>T, XM_017000283.1:c.1858G>A, XM_017000280.3:c.1858G>T, XM_017000280.3:c.1858G>A, XM_017000280.2:c.1858G>T, XM_017000280.2:c.1858G>A, XM_017000280.1:c.1858G>T, XM_017000280.1:c.1858G>A, XM_017000285.3:c.1858G>T, XM_017000285.3:c.1858G>A, XM_017000285.2:c.1858G>T, XM_017000285.2:c.1858G>A, XM_017000285.1:c.1858G>T, XM_017000285.1:c.1858G>A, XM_017000275.2:c.4078G>T, XM_017000275.2:c.4078G>A, XM_017000275.1:c.4078G>T, XM_017000275.1:c.4078G>A, XM_017000278.2:c.1858G>T, XM_017000278.2:c.1858G>A, XM_017000278.1:c.1858G>T, XM_017000278.1:c.1858G>A, XM_017000282.2:c.1858G>T, XM_017000282.2:c.1858G>A, XM_017000282.1:c.1858G>T, XM_017000282.1:c.1858G>A, XM_017000276.2:c.2038G>T, XM_017000276.2:c.2038G>A, XM_017000276.1:c.2038G>T, XM_017000276.1:c.2038G>A, XM_017000277.2:c.1996G>T, XM_017000277.2:c.1996G>A, XM_017000277.1:c.1996G>T, XM_017000277.1:c.1996G>A, XM_047445349.1:c.1858G>T, XM_047445349.1:c.1858G>A, NP_001002912.4:p.Gly1362Cys, NP_001002912.4:p.Gly1362Ser, XP_016855768.1:p.Gly620Cys, XP_016855768.1:p.Gly620Ser, XP_016855772.1:p.Gly620Cys, XP_016855772.1:p.Gly620Ser, XP_016855769.1:p.Gly620Cys, XP_016855769.1:p.Gly620Ser, XP_016855774.1:p.Gly620Cys, XP_016855774.1:p.Gly620Ser, XP_016855764.1:p.Gly1360Cys, XP_016855764.1:p.Gly1360Ser, XP_016855767.1:p.Gly620Cys, XP_016855767.1:p.Gly620Ser, XP_016855771.1:p.Gly620Cys, XP_016855771.1:p.Gly620Ser, XP_016855765.1:p.Gly680Cys, XP_016855765.1:p.Gly680Ser, XP_016855766.1:p.Gly666Cys, XP_016855766.1:p.Gly666Ser, XP_047301305.1:p.Gly620Cys, XP_047301305.1:p.Gly620Ser

Select item 14856833768.

rs1485683376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:74646786 (GRCh38)
1:75112470 (GRCh37)
Canonical SPDI:: NC_000001.11:74646785:T:C
Gene:: ERICH3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.74646786T>C, NC_000001.10:g.75112470T>C, NM_001002912.5:c.124A>G, NM_001002912.4:c.124A>G, XM_017000275.2:c.118A>G, XM_017000275.1:c.118A>G, NP_001002912.4:p.Arg42Gly, XP_016855764.1:p.Arg40Gly

Select item 14848045499.

rs1484804549 has merged into rs776195150 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 1:74573145 (GRCh38)
1:75038829 (GRCh37)
Canonical SPDI:: NC_000001.11:74573144:CCCCCC:CCCCC,NC_000001.11:74573144:CCCCCC:CCCCCCC
Gene:: ERICH3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000008/1 (ExAC)
HGVS:: NC_000001.11:g.74573150del, NC_000001.11:g.74573150dup, NC_000001.10:g.75038834del, NC_000001.10:g.75038834dup, NM_001002912.5:c.2565del, NM_001002912.5:c.2565dup, NM_001002912.4:c.2565del, NM_001002912.4:c.2565dup, XM_017000279.3:c.339del, XM_017000279.3:c.339dup, XM_017000279.2:c.339del, XM_017000279.2:c.339dup, XM_017000279.1:c.339del, XM_017000279.1:c.339dup, XM_017000283.3:c.339del, XM_017000283.3:c.339dup, XM_017000283.2:c.339del, XM_017000283.2:c.339dup, XM_017000283.1:c.339del, XM_017000283.1:c.339dup, XM_017000280.3:c.339del, XM_017000280.3:c.339dup, XM_017000280.2:c.339del, XM_017000280.2:c.339dup, XM_017000280.1:c.339del, XM_017000280.1:c.339dup, XM_017000285.3:c.339del, XM_017000285.3:c.339dup, XM_017000285.2:c.339del, XM_017000285.2:c.339dup, XM_017000285.1:c.339del, XM_017000285.1:c.339dup, XM_017000275.2:c.2559del, XM_017000275.2:c.2559dup, XM_017000275.1:c.2559del, XM_017000275.1:c.2559dup, XM_017000278.2:c.339del, XM_017000278.2:c.339dup, XM_017000278.1:c.339del, XM_017000278.1:c.339dup, XM_017000282.2:c.339del, XM_017000282.2:c.339dup, XM_017000282.1:c.339del, XM_017000282.1:c.339dup, XM_017000276.2:c.519del, XM_017000276.2:c.519dup, XM_017000276.1:c.519del, XM_017000276.1:c.519dup, XM_017000277.2:c.477del, XM_017000277.2:c.477dup, XM_017000277.1:c.477del, XM_017000277.1:c.477dup, XM_047445349.1:c.339del, XM_047445349.1:c.339dup, NP_001002912.4:p.Ser856fs, NP_001002912.4:p.Ser856fs, XP_016855768.1:p.Ser114fs, XP_016855768.1:p.Ser114fs, XP_016855772.1:p.Ser114fs, XP_016855772.1:p.Ser114fs, XP_016855769.1:p.Ser114fs, XP_016855769.1:p.Ser114fs, XP_016855774.1:p.Ser114fs, XP_016855774.1:p.Ser114fs, XP_016855764.1:p.Ser854fs, XP_016855764.1:p.Ser854fs, XP_016855767.1:p.Ser114fs, XP_016855767.1:p.Ser114fs, XP_016855771.1:p.Ser114fs, XP_016855771.1:p.Ser114fs, XP_016855765.1:p.Ser174fs, XP_016855765.1:p.Ser174fs, XP_016855766.1:p.Ser160fs, XP_016855766.1:p.Ser160fs, XP_047301305.1:p.Ser114fs, XP_047301305.1:p.Ser114fs

Select item 148430975910.

rs1484309759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:74612653 (GRCh38)
1:75078337 (GRCh37)
Canonical SPDI:: NC_000001.11:74612652:A:C
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.74612653A>C, NC_000001.10:g.75078337A>C, NM_001002912.5:c.1157T>G, NM_001002912.4:c.1157T>G, XM_017000275.2:c.1151T>G, XM_017000275.1:c.1151T>G, NP_001002912.4:p.Val386Gly, XP_016855764.1:p.Val384Gly

Select item 148412980311.

rs1484129803 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:74589726 (GRCh38)
1:75055410 (GRCh37)
Canonical SPDI:: NC_000001.11:74589725:G:
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.74589726del, NC_000001.10:g.75055410del, NM_001002912.5:c.2081del, NM_001002912.4:c.2081del, XM_017000275.2:c.2075del, XM_017000275.1:c.2075del, NP_001002912.4:p.Ala694fs, XP_016855764.1:p.Ala692fs

Select item 148357106412.

rs1483571064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:74636434 (GRCh38)
1:75102118 (GRCh37)
Canonical SPDI:: NC_000001.11:74636433:G:A
Gene:: ERICH3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.74636434G>A, NC_000001.10:g.75102118G>A, NM_001002912.5:c.449C>T, NM_001002912.4:c.449C>T, XM_017000275.2:c.443C>T, XM_017000275.1:c.443C>T, NP_001002912.4:p.Ala150Val, XP_016855764.1:p.Ala148Val

Select item 148305264513.

rs1483052645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:74599872 (GRCh38)
1:75065556 (GRCh37)
Canonical SPDI:: NC_000001.11:74599871:C:T
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.74599872C>T, NC_000001.10:g.75065556C>T, NM_001002912.5:c.1549G>A, NM_001002912.4:c.1549G>A, XM_017000275.2:c.1543G>A, XM_017000275.1:c.1543G>A, NP_001002912.4:p.Gly517Arg, XP_016855764.1:p.Gly515Arg

Select item 148294256314.

rs1482942563 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:74606757 (GRCh38)
1:75072441 (GRCh37)
Canonical SPDI:: NC_000001.11:74606756:T:C
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.74606757T>C, NC_000001.10:g.75072441T>C, NM_001002912.5:c.1333A>G, NM_001002912.4:c.1333A>G, XM_017000275.2:c.1327A>G, XM_017000275.1:c.1327A>G, NP_001002912.4:p.Ile445Val, XP_016855764.1:p.Ile443Val

Select item 148236428015.

rs1482364280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:74599860 (GRCh38)
1:75065544 (GRCh37)
Canonical SPDI:: NC_000001.11:74599859:C:T
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.74599860C>T, NC_000001.10:g.75065544C>T, NM_001002912.5:c.1561G>A, NM_001002912.4:c.1561G>A, XM_017000275.2:c.1555G>A, XM_017000275.1:c.1555G>A, NP_001002912.4:p.Val521Ile, XP_016855764.1:p.Val519Ile

Select item 148219031616.

rs1482190316 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:74589641 (GRCh38)
1:75055326 (GRCh37)
Canonical SPDI:: NC_000001.11:74589641:AA:AAA
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.74589643dup, NC_000001.10:g.75055327dup, NM_001002912.5:c.2165dup, NM_001002912.4:c.2165dup, XM_017000275.2:c.2159dup, XM_017000275.1:c.2159dup, NP_001002912.4:p.Leu722fs, XP_016855764.1:p.Leu720fs

Select item 148195191817.

rs1481951918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:74571870 (GRCh38)
1:75037554 (GRCh37)
Canonical SPDI:: NC_000001.11:74571869:T:G
Gene:: ERICH3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000001.11:g.74571870T>G, NC_000001.10:g.75037554T>G, NM_001002912.5:c.3840A>C, NM_001002912.4:c.3840A>C, XM_017000279.3:c.1614A>C, XM_017000279.2:c.1614A>C, XM_017000279.1:c.1614A>C, XM_017000283.3:c.1614A>C, XM_017000283.2:c.1614A>C, XM_017000283.1:c.1614A>C, XM_017000280.3:c.1614A>C, XM_017000280.2:c.1614A>C, XM_017000280.1:c.1614A>C, XM_017000285.3:c.1614A>C, XM_017000285.2:c.1614A>C, XM_017000285.1:c.1614A>C, XM_017000275.2:c.3834A>C, XM_017000275.1:c.3834A>C, XM_017000278.2:c.1614A>C, XM_017000278.1:c.1614A>C, XM_017000282.2:c.1614A>C, XM_017000282.1:c.1614A>C, XM_017000276.2:c.1794A>C, XM_017000276.1:c.1794A>C, XM_017000277.2:c.1752A>C, XM_017000277.1:c.1752A>C, XM_047445349.1:c.1614A>C

Select item 148084729018.

rs1480847290 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:74571306 (GRCh38)
1:75036990 (GRCh37)
Canonical SPDI:: NC_000001.11:74571305:T:C
Gene:: ERICH3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.74571306T>C, NC_000001.10:g.75036990T>C, NM_001002912.5:c.4404A>G, NM_001002912.4:c.4404A>G, XM_017000279.3:c.2178A>G, XM_017000279.2:c.2178A>G, XM_017000279.1:c.2178A>G, XM_017000283.3:c.2178A>G, XM_017000283.2:c.2178A>G, XM_017000283.1:c.2178A>G, XM_017000280.3:c.2178A>G, XM_017000280.2:c.2178A>G, XM_017000280.1:c.2178A>G, XM_017000285.3:c.2178A>G, XM_017000285.2:c.2178A>G, XM_017000285.1:c.2178A>G, XM_017000275.2:c.4398A>G, XM_017000275.1:c.4398A>G, XM_017000278.2:c.2178A>G, XM_017000278.1:c.2178A>G, XM_017000282.2:c.2178A>G, XM_017000282.1:c.2178A>G, XM_017000276.2:c.2358A>G, XM_017000276.1:c.2358A>G, XM_017000277.2:c.2316A>G, XM_017000277.1:c.2316A>G, XM_047445349.1:c.2178A>G

Select item 148072455019.

rs1480724550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:74590041 (GRCh38)
1:75055725 (GRCh37)
Canonical SPDI:: NC_000001.11:74590040:G:A
Gene:: ERICH3 (Varview), ERICH3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.74590041G>A, NC_000001.10:g.75055725G>A, NM_001002912.5:c.1766C>T, NM_001002912.4:c.1766C>T, XM_017000275.2:c.1760C>T, XM_017000275.1:c.1760C>T, NP_001002912.4:p.Pro589Leu, XP_016855764.1:p.Pro587Leu

Select item 148061401920.

rs1480614019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:74572283 (GRCh38)
1:75037967 (GRCh37)
Canonical SPDI:: NC_000001.11:74572282:G:A
Gene:: ERICH3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.74572283G>A, NC_000001.10:g.75037967G>A, NM_001002912.5:c.3427C>T, NM_001002912.4:c.3427C>T, XM_017000279.3:c.1201C>T, XM_017000279.2:c.1201C>T, XM_017000279.1:c.1201C>T, XM_017000283.3:c.1201C>T, XM_017000283.2:c.1201C>T, XM_017000283.1:c.1201C>T, XM_017000280.3:c.1201C>T, XM_017000280.2:c.1201C>T, XM_017000280.1:c.1201C>T, XM_017000285.3:c.1201C>T, XM_017000285.2:c.1201C>T, XM_017000285.1:c.1201C>T, XM_017000275.2:c.3421C>T, XM_017000275.1:c.3421C>T, XM_017000278.2:c.1201C>T, XM_017000278.1:c.1201C>T, XM_017000282.2:c.1201C>T, XM_017000282.1:c.1201C>T, XM_017000276.2:c.1381C>T, XM_017000276.1:c.1381C>T, XM_017000277.2:c.1339C>T, XM_017000277.1:c.1339C>T, XM_047445349.1:c.1201C>T, NP_001002912.4:p.Leu1143Phe, XP_016855768.1:p.Leu401Phe, XP_016855772.1:p.Leu401Phe, XP_016855769.1:p.Leu401Phe, XP_016855774.1:p.Leu401Phe, XP_016855764.1:p.Leu1141Phe, XP_016855767.1:p.Leu401Phe, XP_016855771.1:p.Leu401Phe, XP_016855765.1:p.Leu461Phe, XP_016855766.1:p.Leu447Phe, XP_047301305.1:p.Leu401Phe

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Result Filters

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Publication

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Items: 1 to 20 of 1705

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