Linked Data
ClinVar Variation Id:
458788
ClinVar RCV Id:
RCV000543549
dbSNP Id:
rs771978135
ExAC:
1:76226895 A / T
gnomAD v2:
1-76226895-A-T
gnomAD v4:
1-75761210-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761210A>T , CM000663.2:g.75761210A>T | GRCh38 |
| NC_000001.10:g.76226895A>T , CM000663.1:g.76226895A>T | GRCh37 |
| NC_000001.9:g.75999483A>T | NCBI36 |
| NG_007045.2:g.41853A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.1034A>T MANE Select | ENSP00000359878.5:p.Asp345Val | |
| ENST00000473018.3:n.3158A>T | ||
| ENST00000532207.6:n.2045A>T | ||
| ENST00000541113.6:c.938A>T | ENSP00000442324.2:p.Asp313Val | |
| ENST00000679509.1:n.1996A>T | ||
| ENST00000679530.1:c.*802A>T | ENSP00000506454.1:n.*802A>T | |
| ENST00000679615.1:n.3049A>T | ||
| ENST00000679687.1:c.596A>T | ENSP00000506598.1:p.Asp199Val | |
| ENST00000679704.1:c.*800A>T | ENSP00000505117.1:n.*800A>T | |
| ENST00000679709.1:c.*997A>T | ENSP00000506623.1:n.*997A>T | |
| ENST00000679976.1:c.*618A>T | ENSP00000505565.1:n.*618A>T | |
| ENST00000680166.1:n.4323A>T | ||
| ENST00000680315.1:n.917A>T | ||
| ENST00000680517.1:c.*422A>T | ENSP00000505803.1:n.*422A>T | |
| ENST00000680582.1:n.1996A>T | ||
| ENST00000680613.1:c.*527A>T | ENSP00000506114.1:n.*527A>T | |
| ENST00000680662.1:c.*948A>T | ENSP00000505080.1:n.*948A>T | |
| ENST00000680691.1:c.*697A>T | ENSP00000506487.1:n.*697A>T | |
| ENST00000680694.1:c.*622A>T | ENSP00000505658.1:n.*622A>T | |
| ENST00000680743.1:c.*823A>T | ENSP00000505073.1:n.*823A>T | |
| ENST00000680749.1:c.*319A>T | ENSP00000505122.1:n.*319A>T | |
| ENST00000680798.1:c.*509A>T | ENSP00000505670.1:n.*509A>T | |
| ENST00000680805.1:c.893A>T | ENSP00000505447.1:p.Asp298Val | |
| ENST00000680844.1:c.*818A>T | ENSP00000506541.1:n.*818A>T | |
| ENST00000680948.1:c.*901A>T | ENSP00000505441.1:n.*901A>T | |
| ENST00000680964.1:c.*127A>T | ENSP00000505961.1:n.*127A>T | |
| ENST00000681037.1:c.*2518A>T | ENSP00000506025.1:n.*2518A>T | |
| ENST00000681063.1:c.*303A>T | ENSP00000506616.1:n.*303A>T | |
| ENST00000681209.1:c.*689A>T | ENSP00000505877.1:n.*689A>T | |
| ENST00000681278.1:n.1736A>T | ||
| ENST00000681289.1:n.5029A>T | ||
| ENST00000681361.1:c.*701A>T | ENSP00000506679.1:n.*701A>T | |
| ENST00000681430.1:c.*127A>T | ENSP00000506301.1:n.*127A>T | |
| ENST00000681446.1:c.*738A>T | ENSP00000506244.1:n.*738A>T | |
| ENST00000681450.1:c.*705A>T | ENSP00000505660.1:n.*705A>T | |
| ENST00000681548.1:c.*620A>T | ENSP00000505275.1:n.*620A>T | |
| ENST00000681616.1:c.*693A>T | ENSP00000505111.1:n.*693A>T | |
| ENST00000681621.1:c.*618A>T | ENSP00000505770.1:n.*618A>T | |
| ENST00000681680.1:n.3129A>T | ||
| ENST00000681720.1:c.*489A>T | ENSP00000505438.1:n.*489A>T | |
| ENST00000681730.1:n.1256A>T | ||
| ENST00000681790.1:c.776A>T | ENSP00000505130.1:p.Asp259Val | |
| ENST00000681837.1:n.1650A>T | ||
| ENST00000681913.1:n.3280A>T | ||
| ENST00000681916.1:c.*802A>T | ENSP00000506477.1:n.*802A>T | |
| ENST00000681930.1:n.3158A>T | ||
| ENST00000370834.9:c.1133A>T | ENSP00000359871.5:p.Asp378Val | |
| ENST00000370841.8:c.1034A>T | ENSP00000359878.4:p.Asp345Val | |
| ENST00000420607.6:c.1046A>T | ENSP00000409612.2:p.Asp349Val | |
| ENST00000481374.1:n.307A>T | ||
| ENST00000525808.5:c.*620A>T | ENSP00000434823.1:n.*620A>T | |
| ENST00000526129.5:c.*818A>T | ENSP00000434092.1:n.*818A>T | |
| ENST00000526196.5:c.*802A>T | ENSP00000431953.1:n.*802A>T | |
| ENST00000528016.1:c.160-7967A>T | ENSP00000434284.1:n.160-7967A>T | |
| ENST00000529059.5:n.943A>T | ||
| ENST00000534334.5:c.*775A>T | ENSP00000435584.1:n.*775A>T | |
| ENST00000541113.5:c.926A>T | ENSP00000442324.1:p.Asp309Val | |
| NM_000016.5:c.1034A>T | NP_000007.1:p.Asp345Val | |
| NM_001127328.2:c.1046A>T | NP_001120800.1:p.Asp349Val | |
| NM_001286042.1:c.926A>T | NP_001272971.1:p.Asp309Val | |
| NM_001286043.1:c.1133A>T | NP_001272972.1:p.Asp378Val | |
| NM_001286044.1:c.467A>T | NP_001272973.1:p.Asp156Val | |
| NM_000016.6:c.1034A>T MANE Select | NP_000007.1:p.Asp345Val | |
| NM_001127328.3:c.1046A>T | NP_001120800.1:p.Asp349Val | |
| NM_001286042.2:c.926A>T | NP_001272971.1:p.Asp309Val | |
| NM_001286043.2:c.1133A>T | NP_001272972.1:p.Asp378Val | |
| NM_001286044.2:c.467A>T | NP_001272973.1:p.Asp156Val |