Linked Data
ClinVar Variation Id:
6046
ClinVar RCV Id:
RCV000006418
dbSNP Id:
rs121908619
PubMed:
PMID:18513679
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72007634C>A , CM000672.2:g.72007634C>A | GRCh38 |
| NC_000010.10:g.73767392C>A , CM000672.1:g.73767392C>A | GRCh37 |
| NC_000010.9:g.73437398C>A | NCBI36 |
| NG_012635.1:g.48273C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.603C>A MANE Select | ENSP00000362207.4:p.Tyr201Ter | |
| ENST00000373115.4:c.603C>A | ENSP00000362207.4:p.Tyr201Ter | |
| NM_004273.4:c.603C>A | NP_004264.2:p.Tyr201Ter | |
| XM_006718075.2:c.603C>A | XP_006718138.1:p.Tyr201Ter | |
| XM_011540369.1:c.603C>A | XP_011538671.1:p.Tyr201Ter | |
| XM_006718075.4:c.603C>A | XP_006718138.1:p.Tyr201Ter | |
| XM_011540369.2:c.603C>A | XP_011538671.1:p.Tyr201Ter | |
| NM_004273.5:c.603C>A MANE Select | NP_004264.2:p.Tyr201Ter |