Linked Data
ClinVar Variation Id:
403490
ClinVar RCV Id:
RCV000455797
dbSNP Id:
rs11171806
ExAC:
12:56733531 G / A
gnomAD v2:
12-56733531-G-A
gnomAD v3:
12-56339747-G-A
gnomAD v4:
12-56339747-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56339747G>A , CM000674.2:g.56339747G>A | GRCh38 |
| NC_000012.11:g.56733531G>A , CM000674.1:g.56733531G>A | GRCh37 |
| NC_000012.10:g.55019798G>A | NCBI36 |
| NG_046314.1:g.25507C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228534.6:c.318G>A MANE Select | ENSP00000228534.4:p.Ser106= | |
| ENST00000228534.5:c.318G>A | ENSP00000228534.4:p.Ser106= | |
| ENST00000619177.1:n.263G>A | ||
| ENST00000622119.4:n.256G>A | ||
| NM_016584.2:c.318G>A | NP_057668.1:p.Ser106= | |
| XM_011538477.1:c.318G>A | XP_011536779.1:p.Ser106= | |
| XM_011538477.2:c.318G>A | XP_011536779.1:p.Ser106= | |
| NM_016584.3:c.318G>A MANE Select | NP_057668.1:p.Ser106= |