Linked Data
ClinVar Variation Id:
1479731
dbSNP Id:
rs751967235
ExAC:
12:53701466 G / A
gnomAD v2:
12-53701466-G-A
gnomAD v3:
12-53307682-G-A
gnomAD v4:
12-53307682-G-A
COSMIC:
COSM5051720
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307682G>A , CM000674.2:g.53307682G>A | GRCh38 |
| NC_000012.11:g.53701466G>A , CM000674.1:g.53701466G>A | GRCh37 |
| NC_000012.10:g.51987733G>A | NCBI36 |
| NG_016775.1:g.18947C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1448C>T MANE Select | ENSP00000209873.4:p.Pro483Leu | |
| ENST00000546562.6:n.2512C>T | ||
| ENST00000547238.6:n.2084C>T | ||
| ENST00000547520.6:n.1564C>T | ||
| ENST00000547757.2:c.*366C>T | ENSP00000448020.2:n.*366C>T | |
| ENST00000548880.2:n.1898C>T | ||
| ENST00000548931.6:c.883C>T | ENSP00000457518.1:p.Arg295Cys | |
| ENST00000549450.6:n.1382C>T | ||
| ENST00000552161.6:n.2526C>T | ||
| ENST00000672797.1:n.1937C>T | ||
| ENST00000209873.8:c.1448C>T | ENSP00000209873.4:p.Pro483Leu | |
| ENST00000394384.7:c.1349C>T | ENSP00000377908.3:p.Pro450Leu | |
| ENST00000548931.5:c.883C>T | ENSP00000457518.1:p.Arg295Cys | |
| ENST00000550286.5:c.1076C>T | ENSP00000446885.1:p.Pro359Leu | |
| ENST00000552876.5:n.1791C>T | ||
| NM_001173466.1:c.1349C>T | NP_001166937.1:p.Pro450Leu | |
| NM_015665.5:c.1448C>T | NP_056480.1:p.Pro483Leu | |
| XM_006719617.2:c.1463C>T | XP_006719680.1:p.Pro488Leu | |
| XM_011538777.1:c.1505C>T | XP_011537079.1:p.Pro502Leu | |
| XM_011538778.1:c.1490C>T | XP_011537080.1:p.Pro497Leu | |
| XM_011538779.1:c.1406C>T | XP_011537081.1:p.Pro469Leu | |
| XM_011538780.1:c.1391C>T | XP_011537082.1:p.Pro464Leu | |
| XM_011538781.1:c.839C>T | XP_011537083.1:p.Pro280Leu | |
| XM_011538778.2:c.1490C>T | XP_011537080.1:p.Pro497Leu | |
| XM_011538780.2:c.1391C>T | XP_011537082.1:p.Pro464Leu | |
| XR_001748875.2:n.1505C>T | ||
| NM_015665.6:c.1448C>T MANE Select | NP_056480.1:p.Pro483Leu | |
| NM_001173466.2:c.1349C>T | NP_001166937.1:p.Pro450Leu |