Linked Data
ClinVar Variation Id:
308803
dbSNP Id:
rs7955866
ExAC:
12:4479549 G / A
gnomAD v2:
12-4479549-G-A
gnomAD v3:
12-4370383-G-A
gnomAD v4:
12-4370383-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4370383G>A , CM000674.2:g.4370383G>A | GRCh38 |
| NC_000012.11:g.4479549G>A , CM000674.1:g.4479549G>A | GRCh37 |
| NC_000012.10:g.4349810G>A | NCBI36 |
| NG_007087.1:g.14346C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237837.2:c.716C>T MANE Select | ENSP00000237837.1:p.Thr239Met | |
| ENST00000648100.1:c.*1967+4101G>A | ENSP00000497536.1:n.*1967+4101G>A | |
| ENST00000674624.1:c.*1204+4101G>A | ENSP00000501898.1:n.*1204+4101G>A | |
| ENST00000237837.1:c.716C>T | ENSP00000237837.1:p.Thr239Met | |
| NM_020638.2:c.716C>T | NP_065689.1:p.Thr239Met | |
| NM_020638.3:c.716C>T MANE Select | NP_065689.1:p.Thr239Met |