Linked Data
dbSNP Id:
rs936463
ExAC:
11:640432 C / T
gnomAD v2:
11-640432-C-T
gnomAD v4:
11-640432-C-T
COSMIC:
COSM6217070
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.640432C>T , CM000673.2:g.640432C>T | GRCh38 |
| NC_000011.9:g.640432C>T , CM000673.1:g.640432C>T | GRCh37 |
| NC_000011.8:g.630432C>T | NCBI36 |
| NG_021241.1:g.8128C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000176183.6:c.1089C>T MANE Select | ENSP00000176183.5:p.Phe363= | |
| ENST00000176183.5:c.1089C>T | ENSP00000176183.5:p.Phe363= | |
| NM_000797.3:c.1089C>T | NP_000788.2:p.Phe363= | |
| NM_000797.4:c.1089C>T MANE Select | NP_000788.2:p.Phe363= |