Linked Data
dbSNP Id:
rs773542280
ExAC:
12:52886439 G / A
gnomAD v2:
12-52886439-G-A
gnomAD v4:
12-52492655-G-A
COSMIC:
COSM3462303
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492655G>A , CM000674.2:g.52492655G>A | GRCh38 |
| NC_000012.11:g.52886439G>A , CM000674.1:g.52886439G>A | GRCh37 |
| NC_000012.10:g.51172706G>A | NCBI36 |
| NG_008298.1:g.5743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.534C>T MANE Select | ENSP00000369317.3:p.Ile178= | |
| ENST00000330722.6:c.534C>T | ENSP00000369317.3:p.Ile178= | |
| ENST00000549898.5:n.55C>T | ||
| NM_005554.3:c.534C>T | NP_005545.1:p.Ile178= | |
| NM_005554.4:c.534C>T MANE Select | NP_005545.1:p.Ile178= |