Linked Data
ClinVar Variation Id:
12786
ClinVar RCV Id:
RCV003335030
dbSNP Id:
rs74315371
PubMed:
PMID:12000816
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028721C>T , CM000663.2:g.17028721C>T | GRCh38 |
| NC_000001.10:g.17355216C>T , CM000663.1:g.17355216C>T | GRCh37 |
| NC_000001.9:g.17227803C>T | NCBI36 |
| NG_012340.1:g.30450G>A , LRG_316:g.30450G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.131G>A | ENSP00000481376.2:p.Cys44Tyr | |
| ENST00000491274.6:c.260G>A | ENSP00000480482.2:p.Cys87Tyr | |
| ENST00000375499.8:c.302G>A MANE Select | ENSP00000364649.3:p.Cys101Tyr | |
| ENST00000375499.7:c.302G>A | ENSP00000364649.3:p.Cys101Tyr | |
| ENST00000463045.2:c.131G>A | ENSP00000481376.1:p.Cys44Tyr | |
| ENST00000475506.1:n.219G>A | ||
| ENST00000485515.5:n.290G>A | ||
| ENST00000491274.5:c.260G>A | ENSP00000480482.1:p.Cys87Tyr | |
| NM_003000.2:c.302G>A , LRG_316t1:c.302G>A | NP_002991.2:p.Cys101Tyr | |
| NM_003000.3:c.302G>A MANE Select | NP_002991.2:p.Cys101Tyr |