Linked Data
ClinVar Variation Id:
429851
dbSNP Id:
rs769813298
ExAC:
5:178540879 C / T
gnomAD v2:
5-178540879-C-T
gnomAD v3:
5-179113878-C-T
gnomAD v4:
5-179113878-C-T
COSMIC:
COSM4763686
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179113878C>T , CM000667.2:g.179113878C>T | GRCh38 |
| NC_000005.9:g.178540879C>T , CM000667.1:g.178540879C>T | GRCh37 |
| NC_000005.8:g.178473485C>T | NCBI36 |
| NG_023212.2:g.236451G>A | |
| NG_023212.3:g.236451G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251582.12:c.3625G>A MANE Select | ENSP00000251582.7:p.Gly1209Arg | |
| ENST00000251582.11:c.3625G>A | ENSP00000251582.7:p.Gly1209Arg | |
| NM_014244.4:c.3625G>A | NP_055059.2:p.Gly1209Arg | |
| NM_014244.5:c.3625G>A MANE Select | NP_055059.2:p.Gly1209Arg |