Linked Data
ClinVar Variation Id:
373280
dbSNP Id:
rs753947676
ExAC:
7:30662018 A / G
gnomAD v2:
7-30662018-A-G
gnomAD v3:
7-30622402-A-G
gnomAD v4:
7-30622402-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30622402A>G , CM000669.2:g.30622402A>G | GRCh38 |
| NC_000007.13:g.30662018A>G , CM000669.1:g.30662018A>G | GRCh37 |
| NC_000007.12:g.30628543A>G | NCBI36 |
| NG_007942.1:g.32838A>G , LRG_243:g.32838A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1553A>G MANE Select | ENSP00000373918.3:p.Tyr518Cys | |
| ENST00000444666.6:c.1553A>G | ENSP00000415447.2:p.Tyr518Cys | |
| ENST00000470392.2:n.1643A>G | ||
| ENST00000478124.6:n.1616A>G | ||
| ENST00000485784.2:n.1632A>G | ||
| ENST00000674616.1:c.*1267A>G | ENSP00000502408.1:n.*1267A>G | |
| ENST00000674643.1:c.*653A>G | ENSP00000501636.1:n.*653A>G | |
| ENST00000674734.1:n.2865A>G | ||
| ENST00000674737.1:c.*891A>G | ENSP00000502464.1:n.*891A>G | |
| ENST00000674807.1:c.1553A>G | ENSP00000502814.1:p.Tyr518Cys | |
| ENST00000674815.1:c.1184A>G | ENSP00000502799.1:p.Tyr395Cys | |
| ENST00000674851.1:c.1184A>G | ENSP00000502451.1:p.Tyr395Cys | |
| ENST00000674969.1:n.3426A>G | ||
| ENST00000675051.1:c.1352A>G | ENSP00000502296.1:p.Tyr451Cys | |
| ENST00000675529.1:c.*1423A>G | ENSP00000501655.1:n.*1423A>G | |
| ENST00000675587.1:n.2385A>G | ||
| ENST00000675651.1:c.1553A>G | ENSP00000502513.1:p.Tyr518Cys | |
| ENST00000675693.1:c.1385A>G | ENSP00000502174.1:p.Tyr462Cys | |
| ENST00000675810.1:c.1451A>G | ENSP00000502743.1:p.Tyr484Cys | |
| ENST00000675859.1:c.1553A>G | ENSP00000502033.1:p.Tyr518Cys | |
| ENST00000675863.1:n.1561A>G | ||
| ENST00000675886.1:n.7593A>G | ||
| ENST00000676088.1:c.*1495A>G | ENSP00000501884.1:n.*1495A>G | |
| ENST00000676140.1:c.*498A>G | ENSP00000502571.1:n.*498A>G | |
| ENST00000676164.1:c.*1004A>G | ENSP00000501986.1:n.*1004A>G | |
| ENST00000676210.1:c.*842A>G | ENSP00000502373.1:n.*842A>G | |
| ENST00000676259.1:c.*985A>G | ENSP00000501980.1:n.*985A>G | |
| ENST00000676403.1:c.1553A>G | ENSP00000502681.1:p.Tyr518Cys | |
| ENST00000389266.7:c.1553A>G | ENSP00000373918.3:p.Tyr518Cys | |
| ENST00000444666.5:c.74A>G | ENSP00000415447.1:p.Tyr25Cys | |
| ENST00000470392.1:n.275A>G | ||
| ENST00000478124.5:n.1591A>G | ||
| NM_001316772.1:c.1391A>G | NP_001303701.1:p.Tyr464Cys | |
| NM_002047.2:c.1553A>G , LRG_243t1:c.1553A>G | NP_002038.2:p.Tyr518Cys | |
| NM_002047.3:c.1553A>G | NP_002038.2:p.Tyr518Cys | |
| XM_006715686.1:c.1184A>G | XP_006715749.1:p.Tyr395Cys | |
| XM_006715686.2:c.1184A>G | XP_006715749.1:p.Tyr395Cys | |
| NM_002047.4:c.1553A>G MANE Select | NP_002038.2:p.Tyr518Cys |