Linked Data
ClinVar Variation Id:
6970
ClinVar RCV Id:
RCV000007385
dbSNP Id:
rs104894091
PubMed:
PMID:14672344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118933071C>T , CM000670.2:g.118933071C>T | GRCh38 |
| NC_000008.10:g.119945310C>T , CM000670.1:g.119945310C>T | GRCh37 |
| NC_000008.9:g.120014491C>T | NCBI36 |
| NG_012202.1:g.24074G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297350.9:c.260G>A MANE Select | ENSP00000297350.4:p.Cys87Tyr | |
| ENST00000297350.8:c.260G>A | ENSP00000297350.4:p.Cys87Tyr | |
| ENST00000517352.1:c.260G>A | ENSP00000427924.1:p.Cys87Tyr | |
| NM_002546.3:c.260G>A | NP_002537.3:p.Cys87Tyr | |
| NM_002546.4:c.260G>A MANE Select | NP_002537.3:p.Cys87Tyr |