Linked Data
ClinVar Variation Id:
36905
dbSNP Id:
rs193922613
gnomAD v3:
3-10149847-A-G
gnomAD v4:
3-10149847-A-G
CIViC:
CA020462
PubMed:
PMID:14722919
PMID:16210343
PMID:16969113
PMID:23660872
PMID:23859443
PMID:24969085
PMID:25371412
PCER:
P-CER:CA020462/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149847A>G , CM000665.2:g.10149847A>G | GRCh38 |
| NC_000003.11:g.10191531A>G , CM000665.1:g.10191531A>G | GRCh37 |
| NC_000003.10:g.10166531A>G | NCBI36 |
| NG_008212.3:g.13213A>G , LRG_322:g.13213A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*201A>G | ENSP00000512434.1:n.*201A>G | |
| ENST00000696143.1:c.660A>G | ENSP00000512435.1:n.660A>G | |
| ENST00000696153.1:c.635A>G | ENSP00000512444.1:p.Tyr212Cys | |
| ENST00000256474.3:c.524A>G MANE Select | ENSP00000256474.3:p.Tyr175Cys | |
| ENST00000256474.2:c.524A>G | ENSP00000256474.2:p.Tyr175Cys | |
| ENST00000345392.2:c.401A>G | ENSP00000344757.2:p.Tyr134Cys | |
| ENST00000477538.1:n.660A>G | ||
| NM_000551.3:c.524A>G , LRG_322t1:c.524A>G | NP_000542.1:p.Tyr175Cys | |
| NM_198156.2:c.401A>G | NP_937799.1:p.Tyr134Cys | |
| NM_001354723.1:c.*78A>G | NP_001341652.1:n.*78A>G | |
| NM_000551.4:c.524A>G MANE Select | NP_000542.1:p.Tyr175Cys | |
| NM_001354723.2:c.*78A>G | NP_001341652.1:n.*78A>G | |
| NM_198156.3:c.401A>G | NP_937799.1:p.Tyr134Cys |