Linked Data
ClinVar Variation Id:
1309068
dbSNP Id:
rs749946230
ExAC:
5:161580349 A / G
gnomAD v2:
5-161580349-A-G
gnomAD v4:
5-162153343-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162153343A>G , CM000667.2:g.162153343A>G | GRCh38 |
| NC_000005.9:g.161580349A>G , CM000667.1:g.161580349A>G | GRCh37 |
| NC_000005.8:g.161512927A>G | NCBI36 |
| NG_009290.1:g.90702A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.1404A>G | ||
| ENST00000361925.9:c.1499A>G | ENSP00000354651.5:p.Tyr500Cys | |
| ENST00000523372.2:c.1462A>G | ||
| ENST00000638253.1:n.657A>G | ||
| ENST00000638552.1:c.1094A>G | ENSP00000491763.1:p.Tyr365Cys | |
| ENST00000638660.1:c.1118A>G | ENSP00000492869.1:p.Tyr373Cys | |
| ENST00000638772.1:c.*4000A>G | ENSP00000491557.1:n.*4000A>G | |
| ENST00000638877.1:c.1280A>G | ||
| ENST00000639046.1:c.770A>G | ENSP00000492659.1:p.Tyr257Cys | |
| ENST00000639111.2:c.1379A>G | ENSP00000492125.2:p.Tyr460Cys | |
| ENST00000639213.2:c.1403A>G MANE Select | ENSP00000491909.2:p.Tyr468Cys | |
| ENST00000639278.1:c.2066A>G | ENSP00000491958.1:n.2066A>G | |
| ENST00000639384.1:c.*1584A>G | ENSP00000491240.1:n.*1584A>G | |
| ENST00000639424.1:c.*603A>G | ENSP00000491245.1:n.*603A>G | |
| ENST00000639683.1:c.1337A>G | ENSP00000492581.1:p.Tyr446Cys | |
| ENST00000639975.1:c.1313A>G | ENSP00000492096.1:p.Tyr438Cys | |
| ENST00000640500.1:n.677A>G | ||
| ENST00000640739.1:n.6350A>G | ||
| ENST00000640910.1:c.841A>G | ||
| ENST00000640985.1:c.1316A>G | ENSP00000492293.1:p.Tyr439Cys | |
| ENST00000641017.1:c.1472A>G | ENSP00000493461.1:p.Tyr491Cys | |
| ENST00000356592.7:c.1403A>G | ENSP00000349000.3:p.Tyr468Cys | |
| ENST00000361925.8:c.1379A>G | ENSP00000354651.4:p.Tyr460Cys | |
| ENST00000414552.6:c.1523A>G | ENSP00000410732.2:p.Tyr508Cys | |
| ENST00000522990.5:c.*981A>G | ENSP00000430732.1:n.*981A>G | |
| ENST00000523372.1:c.1500A>G | ENSP00000430124.1:n.1500A>G | |
| NM_000816.3:c.1379A>G | NP_000807.2:p.Tyr460Cys | |
| NM_198903.2:c.1523A>G | NP_944493.2:p.Tyr508Cys | |
| NM_198904.2:c.1403A>G | NP_944494.1:p.Tyr468Cys | |
| NM_001375339.1:c.1394A>G | NP_001362268.1:p.Tyr465Cys | |
| NM_001375340.1:c.*237A>G | NP_001362269.1:n.*237A>G | |
| NM_001375341.1:c.1400A>G | NP_001362270.1:p.Tyr467Cys | |
| NM_001375342.1:c.1376A>G | NP_001362271.1:p.Tyr459Cys | |
| NM_001375343.1:c.1499A>G | NP_001362272.1:p.Tyr500Cys | |
| NM_001375344.1:c.1442A>G | NP_001362273.1:p.Tyr481Cys | |
| NM_001375345.1:c.1313A>G | NP_001362274.1:p.Tyr438Cys | |
| NM_001375346.1:c.1337A>G | NP_001362275.1:p.Tyr446Cys | |
| NM_001375347.1:c.1316A>G | NP_001362276.1:p.Tyr439Cys | |
| NM_001375348.1:c.959A>G | NP_001362277.1:p.Tyr320Cys | |
| NM_001375349.1:c.1094A>G | NP_001362278.1:p.Tyr365Cys | |
| NM_001375350.1:c.983A>G | NP_001362279.1:p.Tyr328Cys | |
| NM_198904.3:c.1403A>G | NP_944494.1:p.Tyr468Cys | |
| NM_198904.4:c.1403A>G MANE Select | NP_944494.1:p.Tyr468Cys |