Linked Data
ClinVar Variation Id:
30352
ClinVar RCV Id:
RCV000023295
dbSNP Id:
rs397514472
PubMed:
PMID:20647552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45910273T>C , CM000673.2:g.45910273T>C | GRCh38 |
| NC_000011.9:g.45931824T>C , CM000673.1:g.45931824T>C | GRCh37 |
| NC_000011.8:g.45888400T>C | NCBI36 |
| NG_008460.1:g.12851A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.992A>G MANE Select | ENSP00000368024.5:p.Tyr331Cys | |
| ENST00000241041.7:c.953-96A>G | ENSP00000241041.3:n.953-96A>G | |
| ENST00000378750.9:c.992A>G | ENSP00000368024.5:p.Tyr331Cys | |
| ENST00000523721.2:n.222A>G | ||
| ENST00000532681.5:c.707A>G | ENSP00000434654.1:p.Tyr236Cys | |
| NM_004813.2:c.992A>G | NP_004804.1:p.Tyr331Cys | |
| NM_057174.2:c.953-96A>G | NP_476515.1:n.953-96A>G | |
| XM_011520474.1:c.869A>G | XP_011518776.1:p.Tyr290Cys | |
| NM_004813.3:c.992A>G | NP_004804.1:p.Tyr331Cys | |
| NM_004813.4:c.992A>G MANE Select | NP_004804.2:p.Tyr331Cys | |
| NM_057174.3:c.953-96A>G | NP_476515.2:n.953-96A>G |