Linked Data
ClinVar Variation Id:
1110442
ClinVar RCV Id:
RCV001436646
dbSNP Id:
rs1426726206
gnomAD v2:
1-76227028-A-G
gnomAD v4:
1-75761343-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761343A>G , CM000663.2:g.75761343A>G | GRCh38 |
| NC_000001.10:g.76227028A>G , CM000663.1:g.76227028A>G | GRCh37 |
| NC_000001.9:g.75999616A>G | NCBI36 |
| NG_007045.2:g.41986A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.1167A>G MANE Select | ENSP00000359878.5:p.Lys389= | |
| ENST00000473018.3:n.3291A>G | ||
| ENST00000532207.6:n.2178A>G | ||
| ENST00000541113.6:c.1071A>G | ENSP00000442324.2:p.Lys357= | |
| ENST00000679509.1:n.2129A>G | ||
| ENST00000679530.1:c.*935A>G | ENSP00000506454.1:n.*935A>G | |
| ENST00000679615.1:n.3182A>G | ||
| ENST00000679687.1:c.729A>G | ENSP00000506598.1:p.Lys243= | |
| ENST00000679704.1:c.*933A>G | ENSP00000505117.1:n.*933A>G | |
| ENST00000679709.1:c.*1130A>G | ENSP00000506623.1:n.*1130A>G | |
| ENST00000679976.1:c.*751A>G | ENSP00000505565.1:n.*751A>G | |
| ENST00000680166.1:n.4456A>G | ||
| ENST00000680315.1:n.1050A>G | ||
| ENST00000680517.1:c.*555A>G | ENSP00000505803.1:n.*555A>G | |
| ENST00000680582.1:n.2129A>G | ||
| ENST00000680613.1:c.*660A>G | ENSP00000506114.1:n.*660A>G | |
| ENST00000680662.1:c.*1081A>G | ENSP00000505080.1:n.*1081A>G | |
| ENST00000680691.1:c.*830A>G | ENSP00000506487.1:n.*830A>G | |
| ENST00000680694.1:c.*755A>G | ENSP00000505658.1:n.*755A>G | |
| ENST00000680743.1:c.*956A>G | ENSP00000505073.1:n.*956A>G | |
| ENST00000680749.1:c.*452A>G | ENSP00000505122.1:n.*452A>G | |
| ENST00000680798.1:c.*642A>G | ENSP00000505670.1:n.*642A>G | |
| ENST00000680805.1:c.1026A>G | ENSP00000505447.1:p.Lys342= | |
| ENST00000680844.1:c.*951A>G | ENSP00000506541.1:n.*951A>G | |
| ENST00000680948.1:c.*1034A>G | ENSP00000505441.1:n.*1034A>G | |
| ENST00000680964.1:c.*260A>G | ENSP00000505961.1:n.*260A>G | |
| ENST00000681037.1:c.*2651A>G | ENSP00000506025.1:n.*2651A>G | |
| ENST00000681063.1:c.*436A>G | ENSP00000506616.1:n.*436A>G | |
| ENST00000681209.1:c.*822A>G | ENSP00000505877.1:n.*822A>G | |
| ENST00000681278.1:n.1869A>G | ||
| ENST00000681289.1:n.5162A>G | ||
| ENST00000681361.1:c.*834A>G | ENSP00000506679.1:n.*834A>G | |
| ENST00000681430.1:c.*260A>G | ENSP00000506301.1:n.*260A>G | |
| ENST00000681446.1:c.*871A>G | ENSP00000506244.1:n.*871A>G | |
| ENST00000681450.1:c.*838A>G | ENSP00000505660.1:n.*838A>G | |
| ENST00000681548.1:c.*753A>G | ENSP00000505275.1:n.*753A>G | |
| ENST00000681616.1:c.*826A>G | ENSP00000505111.1:n.*826A>G | |
| ENST00000681621.1:c.*751A>G | ENSP00000505770.1:n.*751A>G | |
| ENST00000681680.1:n.3262A>G | ||
| ENST00000681720.1:c.*622A>G | ENSP00000505438.1:n.*622A>G | |
| ENST00000681730.1:n.1389A>G | ||
| ENST00000681790.1:c.909A>G | ENSP00000505130.1:p.Lys303= | |
| ENST00000681837.1:n.1783A>G | ||
| ENST00000681913.1:n.3413A>G | ||
| ENST00000681916.1:c.*935A>G | ENSP00000506477.1:n.*935A>G | |
| ENST00000681930.1:n.3291A>G | ||
| ENST00000370834.9:c.1266A>G | ENSP00000359871.5:p.Lys422= | |
| ENST00000370841.8:c.1167A>G | ENSP00000359878.4:p.Lys389= | |
| ENST00000420607.6:c.1179A>G | ENSP00000409612.2:p.Lys393= | |
| ENST00000481374.1:n.440A>G | ||
| ENST00000525808.5:c.*753A>G | ENSP00000434823.1:n.*753A>G | |
| ENST00000526129.5:c.*951A>G | ENSP00000434092.1:n.*951A>G | |
| ENST00000526196.5:c.*935A>G | ENSP00000431953.1:n.*935A>G | |
| ENST00000528016.1:c.160-7834A>G | ENSP00000434284.1:n.160-7834A>G | |
| ENST00000529059.5:n.1076A>G | ||
| ENST00000541113.5:c.1059A>G | ENSP00000442324.1:p.Lys353= | |
| NM_000016.5:c.1167A>G | NP_000007.1:p.Lys389= | |
| NM_001127328.2:c.1179A>G | NP_001120800.1:p.Lys393= | |
| NM_001286042.1:c.1059A>G | NP_001272971.1:p.Lys353= | |
| NM_001286043.1:c.1266A>G | NP_001272972.1:p.Lys422= | |
| NM_001286044.1:c.600A>G | NP_001272973.1:p.Lys200= | |
| NM_000016.6:c.1167A>G MANE Select | NP_000007.1:p.Lys389= | |
| NM_001127328.3:c.1179A>G | NP_001120800.1:p.Lys393= | |
| NM_001286042.2:c.1059A>G | NP_001272971.1:p.Lys353= | |
| NM_001286043.2:c.1266A>G | NP_001272972.1:p.Lys422= | |
| NM_001286044.2:c.600A>G | NP_001272973.1:p.Lys200= |