Linked Data
ClinVar Variation Id:
279909
dbSNP Id:
rs200491579
ExAC:
14:24731032 C / T
gnomAD v2:
14-24731032-C-T
gnomAD v3:
14-24261826-C-T
gnomAD v4:
14-24261826-C-T
COSMIC:
COSM1734014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24261826C>T , CM000676.2:g.24261826C>T | GRCh38 |
| NC_000014.8:g.24731032C>T , CM000676.1:g.24731032C>T | GRCh37 |
| NC_000014.7:g.23800872C>T | NCBI36 |
| NG_007150.1:g.6341G>A | |
| NG_007150.2:g.6341G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.377G>A MANE Select | ENSP00000206765.6:p.Arg126His | |
| ENST00000206765.10:c.377G>A | ENSP00000206765.6:p.Arg126His | |
| ENST00000544573.5:c.-29+301G>A | ENSP00000439446.1:n.-29+301G>A | |
| ENST00000558074.1:c.377G>A | ENSP00000453840.1:p.Arg126His | |
| NM_000359.2:c.377G>A | NP_000350.1:p.Arg126His | |
| NM_000359.3:c.377G>A MANE Select | NP_000350.1:p.Arg126His |