Linked Data
ClinVar Variation Id:
14949
ClinVar RCV Id:
RCV000016089
dbSNP Id:
rs137853235
ExAC:
7:81381566 C / T
gnomAD v2:
7-81381566-C-T
gnomAD v4:
7-81752250-C-T
COSMIC:
COSM3640880
PubMed:
PMID:19576567
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81752250C>T , CM000669.2:g.81752250C>T | GRCh38 |
| NC_000007.13:g.81381566C>T , CM000669.1:g.81381566C>T | GRCh37 |
| NC_000007.12:g.81219502C>T | NCBI36 |
| NG_016274.1:g.22887G>A | |
| NG_016274.2:g.22887G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222390.11:c.495G>A MANE Select | ENSP00000222390.5:p.Ser165= | |
| ENST00000423064.7:c.495G>A | ENSP00000413829.2:p.Ser165= | |
| ENST00000444829.7:c.495G>A | ENSP00000389854.2:p.Ser165= | |
| ENST00000453411.6:c.483-3G>A | ENSP00000408270.1:n.483-3G>A | |
| ENST00000457544.7:c.483-3G>A | ENSP00000391238.2:n.483-3G>A | |
| ENST00000465234.2:c.483-3G>A | ENSP00000494355.1:n.483-3G>A | |
| ENST00000222390.9:c.495G>A | ENSP00000222390.5:p.Ser165= | |
| ENST00000423064.6:c.495G>A | ENSP00000413829.2:p.Ser165= | |
| ENST00000444829.6:c.495G>A | ENSP00000389854.2:p.Ser165= | |
| ENST00000453411.5:c.483-3G>A | ENSP00000408270.1:n.483-3G>A | |
| ENST00000457544.6:c.483-3G>A | ENSP00000391238.2:n.483-3G>A | |
| ENST00000465234.1:n.511-3G>A | ||
| NM_000601.4:c.495G>A | NP_000592.3:p.Ser165= | |
| NM_001010931.1:c.495G>A | NP_001010931.1:p.Ser165= | |
| NM_001010931.2:c.495G>A | NP_001010931.1:p.Ser165= | |
| NM_001010932.1:c.483-3G>A | NP_001010932.1:n.483-3G>A | |
| NM_001010933.1:c.483-3G>A | NP_001010933.1:n.483-3G>A | |
| NM_001010933.2:c.483-3G>A | NP_001010933.1:n.483-3G>A | |
| NM_001010934.1:c.495G>A | NP_001010934.1:p.Ser165= | |
| NM_001010934.2:c.495G>A | NP_001010934.1:p.Ser165= | |
| XM_006715956.2:c.495G>A | XP_006716019.1:p.Ser165= | |
| XM_011516115.1:c.483-3G>A | XP_011514417.1:n.483-3G>A | |
| NM_000601.5:c.495G>A | NP_000592.3:p.Ser165= | |
| NM_001010932.2:c.483-3G>A | NP_001010932.1:n.483-3G>A | |
| XM_011516115.2:c.483-3G>A | XP_011514417.1:n.483-3G>A | |
| XM_017012097.1:c.495G>A | XP_016867586.1:p.Ser165= | |
| XM_017012098.1:c.483-3G>A | XP_016867587.1:n.483-3G>A | |
| NM_000601.6:c.495G>A MANE Select | NP_000592.3:p.Ser165= | |
| NM_001010931.3:c.495G>A | NP_001010931.1:p.Ser165= | |
| NM_001010932.3:c.483-3G>A | NP_001010932.1:n.483-3G>A | |
| NM_001010933.3:c.483-3G>A | NP_001010933.1:n.483-3G>A | |
| NM_001010934.3:c.495G>A | NP_001010934.1:p.Ser165= |