Linked Data
ClinVar Variation Id:
1058323
ClinVar RCV Id:
RCV001367447
dbSNP Id:
rs983879715
gnomAD v4:
1-75745828-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75745828G>T , CM000663.2:g.75745828G>T | GRCh38 |
| NC_000001.10:g.76211513G>T , CM000663.1:g.76211513G>T | GRCh37 |
| NC_000001.9:g.75984101G>T | NCBI36 |
| NG_007045.2:g.26471G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.622G>T MANE Select | ENSP00000359878.5:p.Asp208Tyr | |
| ENST00000473018.3:n.2746G>T | ||
| ENST00000532207.6:n.1511G>T | ||
| ENST00000541113.6:c.622G>T | ENSP00000442324.2:p.Asp208Tyr | |
| ENST00000679509.1:n.1584G>T | ||
| ENST00000679530.1:c.*390G>T | ENSP00000506454.1:n.*390G>T | |
| ENST00000679615.1:n.2724-3591G>T | ||
| ENST00000679687.1:c.184G>T | ENSP00000506598.1:p.Asp62Tyr | |
| ENST00000679704.1:c.*388G>T | ENSP00000505117.1:n.*388G>T | |
| ENST00000679709.1:c.*585G>T | ENSP00000506623.1:n.*585G>T | |
| ENST00000679976.1:c.*206G>T | ENSP00000505565.1:n.*206G>T | |
| ENST00000680166.1:n.3911G>T | ||
| ENST00000680517.1:c.*97-3591G>T | ENSP00000505803.1:n.*97-3591G>T | |
| ENST00000680582.1:n.1584G>T | ||
| ENST00000680613.1:c.600-7G>T | ENSP00000506114.1:n.600-7G>T | |
| ENST00000680662.1:c.*536G>T | ENSP00000505080.1:n.*536G>T | |
| ENST00000680691.1:c.*285G>T | ENSP00000506487.1:n.*285G>T | |
| ENST00000680694.1:c.*210G>T | ENSP00000505658.1:n.*210G>T | |
| ENST00000680743.1:c.*289G>T | ENSP00000505073.1:n.*289G>T | |
| ENST00000680749.1:c.600-3591G>T | ENSP00000505122.1:n.600-3591G>T | |
| ENST00000680798.1:c.*184-3591G>T | ENSP00000505670.1:n.*184-3591G>T | |
| ENST00000680805.1:c.622G>T | ENSP00000505447.1:p.Asp208Tyr | |
| ENST00000680844.1:c.*406G>T | ENSP00000506541.1:n.*406G>T | |
| ENST00000680948.1:c.*489G>T | ENSP00000505441.1:n.*489G>T | |
| ENST00000680964.1:c.622G>T | ENSP00000505961.1:p.Asp208Tyr | |
| ENST00000681037.1:c.*2113-7G>T | ENSP00000506025.1:n.*2113-7G>T | |
| ENST00000681063.1:c.600-4623G>T | ENSP00000506616.1:n.600-4623G>T | |
| ENST00000681209.1:c.*364-3591G>T | ENSP00000505877.1:n.*364-3591G>T | |
| ENST00000681278.1:n.979G>T | ||
| ENST00000681289.1:n.4617G>T | ||
| ENST00000681361.1:c.*289G>T | ENSP00000506679.1:n.*289G>T | |
| ENST00000681430.1:c.622G>T | ENSP00000506301.1:p.Asp208Tyr | |
| ENST00000681446.1:c.*204G>T | ENSP00000506244.1:n.*204G>T | |
| ENST00000681450.1:c.*293G>T | ENSP00000505660.1:n.*293G>T | |
| ENST00000681548.1:c.*208G>T | ENSP00000505275.1:n.*208G>T | |
| ENST00000681616.1:c.*368-3591G>T | ENSP00000505111.1:n.*368-3591G>T | |
| ENST00000681621.1:c.*206G>T | ENSP00000505770.1:n.*206G>T | |
| ENST00000681680.1:n.2724-7G>T | ||
| ENST00000681720.1:c.*77G>T | ENSP00000505438.1:n.*77G>T | |
| ENST00000681730.1:n.844G>T | ||
| ENST00000681790.1:c.364G>T | ENSP00000505130.1:p.Asp122Tyr | |
| ENST00000681837.1:n.1238G>T | ||
| ENST00000681913.1:n.2746G>T | ||
| ENST00000681916.1:c.*390G>T | ENSP00000506477.1:n.*390G>T | |
| ENST00000681930.1:n.2746G>T | ||
| ENST00000370834.9:c.721G>T | ENSP00000359871.5:p.Asp241Tyr | |
| ENST00000370841.8:c.622G>T | ENSP00000359878.4:p.Asp208Tyr | |
| ENST00000420607.6:c.634G>T | ENSP00000409612.2:p.Asp212Tyr | |
| ENST00000525808.5:c.*208G>T | ENSP00000434823.1:n.*208G>T | |
| ENST00000526129.5:c.*406G>T | ENSP00000434092.1:n.*406G>T | |
| ENST00000526196.5:c.*390G>T | ENSP00000431953.1:n.*390G>T | |
| ENST00000526930.1:n.395G>T | ||
| ENST00000529059.5:n.531G>T | ||
| ENST00000530953.6:c.*119G>T | ENSP00000431372.1:n.*119G>T | |
| ENST00000532207.5:n.352G>T | ||
| ENST00000532509.5:c.*386G>T | ENSP00000432522.1:n.*386G>T | |
| ENST00000534334.5:c.*206G>T | ENSP00000435584.1:n.*206G>T | |
| ENST00000541113.5:c.514G>T | ENSP00000442324.1:p.Asp172Tyr | |
| NM_000016.5:c.622G>T | NP_000007.1:p.Asp208Tyr | |
| NM_001127328.2:c.634G>T | NP_001120800.1:p.Asp212Tyr | |
| NM_001286042.1:c.514G>T | NP_001272971.1:p.Asp172Tyr | |
| NM_001286043.1:c.721G>T | NP_001272972.1:p.Asp241Tyr | |
| NM_001286044.1:c.55G>T | NP_001272973.1:p.Asp19Tyr | |
| NM_000016.6:c.622G>T MANE Select | NP_000007.1:p.Asp208Tyr | |
| NM_001127328.3:c.634G>T | NP_001120800.1:p.Asp212Tyr | |
| NM_001286042.2:c.514G>T | NP_001272971.1:p.Asp172Tyr | |
| NM_001286043.2:c.721G>T | NP_001272972.1:p.Asp241Tyr | |
| NM_001286044.2:c.55G>T | NP_001272973.1:p.Asp19Tyr |