Linked Data
ClinVar Variation Id:
721001
dbSNP Id:
rs142909496
ExAC:
1:185962370 G / A
gnomAD v2:
1-185962370-G-A
gnomAD v3:
1-185993238-G-A
gnomAD v4:
1-185993238-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.185993238G>A , CM000663.2:g.185993238G>A | GRCh38 |
| NC_000001.10:g.185962370G>A , CM000663.1:g.185962370G>A | GRCh37 |
| NC_000001.9:g.184228993G>A | NCBI36 |
| NG_011841.1:g.263688G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.3434G>A MANE Select | ENSP00000271588.4:p.Ser1145Asn | |
| ENST00000271588.8:c.3434G>A | ENSP00000271588.4:p.Ser1145Asn | |
| ENST00000485744.5:n.1685G>A | ||
| NM_031935.2:c.3434G>A | NP_114141.2:p.Ser1145Asn | |
| XM_011510037.1:c.3434G>A | XP_011508339.1:p.Ser1145Asn | |
| XM_011510038.1:c.3434G>A | XP_011508340.1:p.Ser1145Asn | |
| XM_011510039.1:c.3434G>A | XP_011508341.1:p.Ser1145Asn | |
| XM_011510040.1:c.3434G>A | XP_011508342.1:p.Ser1145Asn | |
| XM_011510041.1:c.3434G>A | XP_011508343.1:p.Ser1145Asn | |
| XM_011510038.3:c.3434G>A | XP_011508340.1:p.Ser1145Asn | |
| XM_011510041.3:c.3434G>A | XP_011508343.1:p.Ser1145Asn | |
| XM_017002437.1:c.1457G>A | XP_016857926.1:p.Ser486Asn | |
| XM_024450118.1:c.3434G>A | XP_024305886.1:p.Ser1145Asn | |
| NM_031935.3:c.3434G>A MANE Select | NP_114141.2:p.Ser1145Asn |