Linked Data
ClinVar Variation Id:
14139
dbSNP Id:
rs121913618
COSMIC:
COSM975397
PubMed:
PMID:16642020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10641318G>A , CM000679.2:g.10641318G>A | GRCh38 |
| NC_000017.10:g.10544635G>A , CM000679.1:g.10544635G>A | GRCh37 |
| NC_000017.9:g.10485360G>A | NCBI36 |
| NG_011537.1:g.20981C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000583535.6:c.2014C>T MANE Select | ENSP00000464317.1:p.Arg672Cys | |
| ENST00000583535.5:c.2014C>T | ENSP00000464317.1:p.Arg672Cys | |
| NM_002470.3:c.2014C>T | NP_002461.2:p.Arg672Cys | |
| XM_011523870.1:c.2014C>T | XP_011522172.1:p.Arg672Cys | |
| XM_011523871.1:c.2014C>T | XP_011522173.1:p.Arg672Cys | |
| XM_011523872.1:c.2014C>T | XP_011522174.1:p.Arg672Cys | |
| XM_011523870.3:c.2014C>T | XP_011522172.1:p.Arg672Cys | |
| XM_011523871.2:c.2014C>T | XP_011522173.1:p.Arg672Cys | |
| NM_002470.4:c.2014C>T MANE Select | NP_002461.2:p.Arg672Cys |