Linked Data
ClinVar Variation Id:
884069
dbSNP Id:
rs371548640
ExAC:
12:57975696 G / A
gnomAD v2:
12-57975696-G-A
gnomAD v3:
12-57581913-G-A
gnomAD v4:
12-57581913-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57581913G>A , CM000674.2:g.57581913G>A | GRCh38 |
| NC_000012.11:g.57975696G>A , CM000674.1:g.57975696G>A | GRCh37 |
| NC_000012.10:g.56261963G>A | NCBI36 |
| NG_008155.1:g.36850G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2953G>A MANE Select | ENSP00000408979.2:p.Gly985Ser | |
| ENST00000674619.1:c.2974G>A | ENSP00000502270.1:p.Gly992Ser | |
| ENST00000675697.1:c.44G>A | ||
| ENST00000675737.1:n.357G>A | ||
| ENST00000675882.1:n.2476G>A | ||
| ENST00000675929.1:n.1511G>A | ||
| ENST00000676055.1:c.44G>A | ||
| ENST00000676457.1:c.2848G>A | ENSP00000501588.1:p.Gly950Ser | |
| ENST00000286452.5:c.2686G>A | ENSP00000286452.5:p.Gly896Ser | |
| ENST00000455537.6:c.2953G>A | ENSP00000408979.2:p.Gly985Ser | |
| ENST00000552227.1:n.236G>A | ||
| NM_004984.2:c.2953G>A | NP_004975.2:p.Gly985Ser | |
| NM_001354705.1:c.2686G>A | NP_001341634.1:p.Gly896Ser | |
| NM_004984.3:c.2953G>A | NP_004975.2:p.Gly985Ser | |
| XR_002957324.1:n.3186G>A | ||
| NM_004984.4:c.2953G>A MANE Select | NP_004975.2:p.Gly985Ser | |
| NM_001354705.2:c.2686G>A | NP_001341634.1:p.Gly896Ser |