Linked Data
ClinVar Variation Id:
1431508
ClinVar RCV Id:
RCV001967547
dbSNP Id:
rs2100453846
gnomAD v4:
1-75761351-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761351G>A , CM000663.2:g.75761351G>A | GRCh38 |
| NC_000001.10:g.76227036G>A , CM000663.1:g.76227036G>A | GRCh37 |
| NC_000001.9:g.75999624G>A | NCBI36 |
| NG_007045.2:g.41994G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.1175G>A MANE Select | ENSP00000359878.5:p.Arg392Lys | |
| ENST00000473018.3:n.3299G>A | ||
| ENST00000532207.6:n.2186G>A | ||
| ENST00000541113.6:c.1079G>A | ENSP00000442324.2:p.Arg360Lys | |
| ENST00000679509.1:n.2137G>A | ||
| ENST00000679530.1:c.*943G>A | ENSP00000506454.1:n.*943G>A | |
| ENST00000679615.1:n.3190G>A | ||
| ENST00000679687.1:c.737G>A | ENSP00000506598.1:p.Arg246Lys | |
| ENST00000679704.1:c.*941G>A | ENSP00000505117.1:n.*941G>A | |
| ENST00000679709.1:c.*1138G>A | ENSP00000506623.1:n.*1138G>A | |
| ENST00000679976.1:c.*759G>A | ENSP00000505565.1:n.*759G>A | |
| ENST00000680166.1:n.4464G>A | ||
| ENST00000680315.1:n.1058G>A | ||
| ENST00000680517.1:c.*563G>A | ENSP00000505803.1:n.*563G>A | |
| ENST00000680582.1:n.2137G>A | ||
| ENST00000680613.1:c.*668G>A | ENSP00000506114.1:n.*668G>A | |
| ENST00000680662.1:c.*1089G>A | ENSP00000505080.1:n.*1089G>A | |
| ENST00000680691.1:c.*838G>A | ENSP00000506487.1:n.*838G>A | |
| ENST00000680694.1:c.*763G>A | ENSP00000505658.1:n.*763G>A | |
| ENST00000680743.1:c.*964G>A | ENSP00000505073.1:n.*964G>A | |
| ENST00000680749.1:c.*460G>A | ENSP00000505122.1:n.*460G>A | |
| ENST00000680798.1:c.*650G>A | ENSP00000505670.1:n.*650G>A | |
| ENST00000680805.1:c.1034G>A | ENSP00000505447.1:p.Arg345Lys | |
| ENST00000680844.1:c.*959G>A | ENSP00000506541.1:n.*959G>A | |
| ENST00000680948.1:c.*1042G>A | ENSP00000505441.1:n.*1042G>A | |
| ENST00000680964.1:c.*268G>A | ENSP00000505961.1:n.*268G>A | |
| ENST00000681037.1:c.*2659G>A | ENSP00000506025.1:n.*2659G>A | |
| ENST00000681063.1:c.*444G>A | ENSP00000506616.1:n.*444G>A | |
| ENST00000681209.1:c.*830G>A | ENSP00000505877.1:n.*830G>A | |
| ENST00000681278.1:n.1877G>A | ||
| ENST00000681289.1:n.5170G>A | ||
| ENST00000681361.1:c.*842G>A | ENSP00000506679.1:n.*842G>A | |
| ENST00000681430.1:c.*268G>A | ENSP00000506301.1:n.*268G>A | |
| ENST00000681446.1:c.*879G>A | ENSP00000506244.1:n.*879G>A | |
| ENST00000681450.1:c.*846G>A | ENSP00000505660.1:n.*846G>A | |
| ENST00000681548.1:c.*761G>A | ENSP00000505275.1:n.*761G>A | |
| ENST00000681616.1:c.*834G>A | ENSP00000505111.1:n.*834G>A | |
| ENST00000681621.1:c.*759G>A | ENSP00000505770.1:n.*759G>A | |
| ENST00000681680.1:n.3270G>A | ||
| ENST00000681720.1:c.*630G>A | ENSP00000505438.1:n.*630G>A | |
| ENST00000681730.1:n.1397G>A | ||
| ENST00000681790.1:c.917G>A | ENSP00000505130.1:p.Arg306Lys | |
| ENST00000681837.1:n.1791G>A | ||
| ENST00000681913.1:n.3421G>A | ||
| ENST00000681916.1:c.*943G>A | ENSP00000506477.1:n.*943G>A | |
| ENST00000681930.1:n.3299G>A | ||
| ENST00000370834.9:c.1274G>A | ENSP00000359871.5:p.Arg425Lys | |
| ENST00000370841.8:c.1175G>A | ENSP00000359878.4:p.Arg392Lys | |
| ENST00000420607.6:c.1187G>A | ENSP00000409612.2:p.Arg396Lys | |
| ENST00000481374.1:n.448G>A | ||
| ENST00000525808.5:c.*761G>A | ENSP00000434823.1:n.*761G>A | |
| ENST00000526129.5:c.*959G>A | ENSP00000434092.1:n.*959G>A | |
| ENST00000526196.5:c.*943G>A | ENSP00000431953.1:n.*943G>A | |
| ENST00000528016.1:c.160-7826G>A | ENSP00000434284.1:n.160-7826G>A | |
| ENST00000529059.5:n.1084G>A | ||
| ENST00000541113.5:c.1067G>A | ENSP00000442324.1:p.Arg356Lys | |
| NM_000016.5:c.1175G>A | NP_000007.1:p.Arg392Lys | |
| NM_001127328.2:c.1187G>A | NP_001120800.1:p.Arg396Lys | |
| NM_001286042.1:c.1067G>A | NP_001272971.1:p.Arg356Lys | |
| NM_001286043.1:c.1274G>A | NP_001272972.1:p.Arg425Lys | |
| NM_001286044.1:c.608G>A | NP_001272973.1:p.Arg203Lys | |
| NM_000016.6:c.1175G>A MANE Select | NP_000007.1:p.Arg392Lys | |
| NM_001127328.3:c.1187G>A | NP_001120800.1:p.Arg396Lys | |
| NM_001286042.2:c.1067G>A | NP_001272971.1:p.Arg356Lys | |
| NM_001286043.2:c.1274G>A | NP_001272972.1:p.Arg425Lys | |
| NM_001286044.2:c.608G>A | NP_001272973.1:p.Arg203Lys |