Linked Data
ClinVar Variation Id:
1108657
ClinVar RCV Id:
RCV001434233
dbSNP Id:
rs774315514
ExAC:
1:76226893 T / A
gnomAD v2:
1-76226893-T-A
gnomAD v3:
1-75761208-T-A
gnomAD v4:
1-75761208-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761208T>A , CM000663.2:g.75761208T>A | GRCh38 |
| NC_000001.10:g.76226893T>A , CM000663.1:g.76226893T>A | GRCh37 |
| NC_000001.9:g.75999481T>A | NCBI36 |
| NG_007045.2:g.41851T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.1032T>A MANE Select | ENSP00000359878.5:p.Val344= | |
| ENST00000473018.3:n.3156T>A | ||
| ENST00000532207.6:n.2043T>A | ||
| ENST00000541113.6:c.936T>A | ENSP00000442324.2:p.Val312= | |
| ENST00000679509.1:n.1994T>A | ||
| ENST00000679530.1:c.*800T>A | ENSP00000506454.1:n.*800T>A | |
| ENST00000679615.1:n.3047T>A | ||
| ENST00000679687.1:c.594T>A | ENSP00000506598.1:p.Val198= | |
| ENST00000679704.1:c.*798T>A | ENSP00000505117.1:n.*798T>A | |
| ENST00000679709.1:c.*995T>A | ENSP00000506623.1:n.*995T>A | |
| ENST00000679976.1:c.*616T>A | ENSP00000505565.1:n.*616T>A | |
| ENST00000680166.1:n.4321T>A | ||
| ENST00000680315.1:n.915T>A | ||
| ENST00000680517.1:c.*420T>A | ENSP00000505803.1:n.*420T>A | |
| ENST00000680582.1:n.1994T>A | ||
| ENST00000680613.1:c.*525T>A | ENSP00000506114.1:n.*525T>A | |
| ENST00000680662.1:c.*946T>A | ENSP00000505080.1:n.*946T>A | |
| ENST00000680691.1:c.*695T>A | ENSP00000506487.1:n.*695T>A | |
| ENST00000680694.1:c.*620T>A | ENSP00000505658.1:n.*620T>A | |
| ENST00000680743.1:c.*821T>A | ENSP00000505073.1:n.*821T>A | |
| ENST00000680749.1:c.*317T>A | ENSP00000505122.1:n.*317T>A | |
| ENST00000680798.1:c.*507T>A | ENSP00000505670.1:n.*507T>A | |
| ENST00000680805.1:c.891T>A | ENSP00000505447.1:p.Val297= | |
| ENST00000680844.1:c.*816T>A | ENSP00000506541.1:n.*816T>A | |
| ENST00000680948.1:c.*899T>A | ENSP00000505441.1:n.*899T>A | |
| ENST00000680964.1:c.*125T>A | ENSP00000505961.1:n.*125T>A | |
| ENST00000681037.1:c.*2516T>A | ENSP00000506025.1:n.*2516T>A | |
| ENST00000681063.1:c.*301T>A | ENSP00000506616.1:n.*301T>A | |
| ENST00000681209.1:c.*687T>A | ENSP00000505877.1:n.*687T>A | |
| ENST00000681278.1:n.1734T>A | ||
| ENST00000681289.1:n.5027T>A | ||
| ENST00000681361.1:c.*699T>A | ENSP00000506679.1:n.*699T>A | |
| ENST00000681430.1:c.*125T>A | ENSP00000506301.1:n.*125T>A | |
| ENST00000681446.1:c.*736T>A | ENSP00000506244.1:n.*736T>A | |
| ENST00000681450.1:c.*703T>A | ENSP00000505660.1:n.*703T>A | |
| ENST00000681548.1:c.*618T>A | ENSP00000505275.1:n.*618T>A | |
| ENST00000681616.1:c.*691T>A | ENSP00000505111.1:n.*691T>A | |
| ENST00000681621.1:c.*616T>A | ENSP00000505770.1:n.*616T>A | |
| ENST00000681680.1:n.3127T>A | ||
| ENST00000681720.1:c.*487T>A | ENSP00000505438.1:n.*487T>A | |
| ENST00000681730.1:n.1254T>A | ||
| ENST00000681790.1:c.774T>A | ENSP00000505130.1:p.Val258= | |
| ENST00000681837.1:n.1648T>A | ||
| ENST00000681913.1:n.3278T>A | ||
| ENST00000681916.1:c.*800T>A | ENSP00000506477.1:n.*800T>A | |
| ENST00000681930.1:n.3156T>A | ||
| ENST00000370834.9:c.1131T>A | ENSP00000359871.5:p.Val377= | |
| ENST00000370841.8:c.1032T>A | ENSP00000359878.4:p.Val344= | |
| ENST00000420607.6:c.1044T>A | ENSP00000409612.2:p.Val348= | |
| ENST00000481374.1:n.305T>A | ||
| ENST00000525808.5:c.*618T>A | ENSP00000434823.1:n.*618T>A | |
| ENST00000526129.5:c.*816T>A | ENSP00000434092.1:n.*816T>A | |
| ENST00000526196.5:c.*800T>A | ENSP00000431953.1:n.*800T>A | |
| ENST00000528016.1:c.160-7969T>A | ENSP00000434284.1:n.160-7969T>A | |
| ENST00000529059.5:n.941T>A | ||
| ENST00000532207.5:n.762T>A | ||
| ENST00000534334.5:c.*773T>A | ENSP00000435584.1:n.*773T>A | |
| ENST00000541113.5:c.924T>A | ENSP00000442324.1:p.Val308= | |
| NM_000016.5:c.1032T>A | NP_000007.1:p.Val344= | |
| NM_001127328.2:c.1044T>A | NP_001120800.1:p.Val348= | |
| NM_001286042.1:c.924T>A | NP_001272971.1:p.Val308= | |
| NM_001286043.1:c.1131T>A | NP_001272972.1:p.Val377= | |
| NM_001286044.1:c.465T>A | NP_001272973.1:p.Val155= | |
| NM_000016.6:c.1032T>A MANE Select | NP_000007.1:p.Val344= | |
| NM_001127328.3:c.1044T>A | NP_001120800.1:p.Val348= | |
| NM_001286042.2:c.924T>A | NP_001272971.1:p.Val308= | |
| NM_001286043.2:c.1131T>A | NP_001272972.1:p.Val377= | |
| NM_001286044.2:c.465T>A | NP_001272973.1:p.Val155= |