Linked Data
ClinVar Variation Id:
45033
ClinVar RCV Id:
RCV000038172
RCV000148726
RCV000205511
RCV000239283
RCV000621305
RCV000771145
RCV000852676
RCV001705683
RCV003318346
dbSNP Id:
rs146882581
ExAC:
12:32994073 G / A
gnomAD v2:
12-32994073-G-A
gnomAD v3:
12-32841139-G-A
gnomAD v4:
12-32841139-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32841139G>A , CM000674.2:g.32841139G>A | GRCh38 |
| NC_000012.11:g.32994073G>A , CM000674.1:g.32994073G>A | GRCh37 |
| NC_000012.10:g.32885340G>A | NCBI36 |
| NG_009000.1:g.60708C>T , LRG_398:g.60708C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.1445C>T | ENSP00000515065.2:p.Thr482Met | |
| ENST00000700563.2:c.1445C>T | ENSP00000515066.2:p.Thr482Met | |
| ENST00000700559.1:c.660C>T | ||
| ENST00000700560.1:n.660C>T | ||
| ENST00000700561.1:n.786C>T | ||
| ENST00000700563.1:c.1399C>T | ||
| ENST00000700564.1:n.1449C>T | ||
| ENST00000700565.1:n.1298C>T | ||
| ENST00000070846.11:c.1577C>T | ENSP00000070846.6:p.Thr526Met | |
| ENST00000340811.9:c.1445C>T MANE Select | ENSP00000342800.5:p.Thr482Met | |
| ENST00000070846.10:c.1577C>T | ENSP00000070846.6:p.Thr526Met | |
| ENST00000340811.8:c.1445C>T | ENSP00000342800.4:p.Thr482Met | |
| ENST00000613243.1:c.1577C>T | ENSP00000478295.1:p.Thr526Met | |
| NM_001005242.2:c.1445C>T | NP_001005242.2:p.Thr482Met | |
| NM_004572.3:c.1577C>T , LRG_398t1:c.1577C>T | NP_004563.2:p.Thr526Met | |
| NM_001005242.3:c.1445C>T MANE Select | NP_001005242.2:p.Thr482Met | |
| NM_004572.4:c.1577C>T | NP_004563.2:p.Thr526Met |