Linked Data
ClinVar Variation Id:
371634
dbSNP Id:
rs753520553
ExAC:
17:40689451 A / G
gnomAD v2:
17-40689451-A-G
gnomAD v3:
17-42537433-A-G
gnomAD v4:
17-42537433-A-G
COSMIC:
COSM4579710
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42537433A>G , CM000679.2:g.42537433A>G | GRCh38 |
| NC_000017.10:g.40689451A>G , CM000679.1:g.40689451A>G | GRCh37 |
| NC_000017.9:g.37942977A>G | NCBI36 |
| NG_011552.1:g.6501A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.419A>G MANE Select | ENSP00000225927.1:p.Tyr140Cys | |
| ENST00000225927.6:c.419A>G | ENSP00000225927.1:p.Tyr140Cys | |
| ENST00000586516.5:c.133+778A>G | ||
| ENST00000590358.1:c.107A>G | ENSP00000466892.1:p.Tyr36Cys | |
| ENST00000591587.1:c.126+778A>G | ENSP00000467836.1:n.126+778A>G | |
| NM_000263.3:c.419A>G | NP_000254.2:p.Tyr140Cys | |
| XM_006721920.2:c.-324A>G | XP_006721983.1:n.-324A>G | |
| XM_011524840.1:c.-324A>G | XP_011523142.1:n.-324A>G | |
| XM_017024687.1:c.-324A>G | XP_016880176.1:n.-324A>G | |
| XM_024450771.1:c.476A>G | XP_024306539.1:p.Tyr159Cys | |
| XM_024450772.1:c.-324A>G | XP_024306540.1:n.-324A>G | |
| NM_000263.4:c.419A>G MANE Select | NP_000254.2:p.Tyr140Cys |