Linked Data
ClinVar Variation Id:
309736
dbSNP Id:
rs146770218
ExAC:
12:53709185 G / A
gnomAD v2:
12-53709185-G-A
gnomAD v3:
12-53315401-G-A
gnomAD v4:
12-53315401-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53315401G>A , CM000674.2:g.53315401G>A | GRCh38 |
| NC_000012.11:g.53709185G>A , CM000674.1:g.53709185G>A | GRCh37 |
| NC_000012.10:g.51995452G>A | NCBI36 |
| NG_016775.1:g.11228C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.333C>T MANE Select | ENSP00000209873.4:p.Ser111= | |
| ENST00000546393.7:n.431C>T | ||
| ENST00000546562.6:n.650C>T | ||
| ENST00000547238.6:n.775C>T | ||
| ENST00000547520.6:n.327C>T | ||
| ENST00000547757.2:c.-520C>T | ENSP00000448020.2:n.-520C>T | |
| ENST00000548880.2:n.783C>T | ||
| ENST00000549450.6:n.267C>T | ||
| ENST00000552161.6:n.1095C>T | ||
| ENST00000672797.1:n.786C>T | ||
| ENST00000672900.1:n.384C>T | ||
| ENST00000209873.8:c.333C>T | ENSP00000209873.4:p.Ser111= | |
| ENST00000394384.7:c.333C>T | ENSP00000377908.3:p.Ser111= | |
| ENST00000547238.5:n.726C>T | ||
| ENST00000547757.1:c.333C>T | ENSP00000448020.1:p.Ser111= | |
| ENST00000547761.6:n.292-261C>T | ||
| ENST00000548258.5:n.361C>T | ||
| ENST00000549450.5:n.327C>T | ||
| ENST00000549821.5:n.331C>T | ||
| ENST00000549983.5:n.356C>T | ||
| ENST00000550286.5:c.28-261C>T | ENSP00000446885.1:n.28-261C>T | |
| ENST00000551724.5:n.383C>T | ||
| ENST00000552161.5:n.428C>T | ||
| ENST00000552876.5:n.775C>T | ||
| NM_001173466.1:c.333C>T | NP_001166937.1:p.Ser111= | |
| NM_015665.5:c.333C>T | NP_056480.1:p.Ser111= | |
| XM_006719617.2:c.348C>T | XP_006719680.1:p.Ser116= | |
| XM_006719619.2:c.348C>T | XP_006719682.1:p.Ser116= | |
| XM_011538777.1:c.348C>T | XP_011537079.1:p.Ser116= | |
| XM_011538778.1:c.333C>T | XP_011537080.1:p.Ser111= | |
| XM_011538779.1:c.348C>T | XP_011537081.1:p.Ser116= | |
| XM_011538780.1:c.333C>T | XP_011537082.1:p.Ser111= | |
| XM_011538778.2:c.333C>T | XP_011537080.1:p.Ser111= | |
| XM_011538780.2:c.333C>T | XP_011537082.1:p.Ser111= | |
| XR_001748875.2:n.453C>T | ||
| NM_015665.6:c.333C>T MANE Select | NP_056480.1:p.Ser111= | |
| NM_001173466.2:c.333C>T | NP_001166937.1:p.Ser111= |