Linked Data
ClinVar Variation Id:
292566
dbSNP Id:
rs113799188
ExAC:
1:150532586 C / A
gnomAD v2:
1-150532586-C-A
gnomAD v3:
1-150560110-C-A
gnomAD v4:
1-150560110-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150560110C>A , CM000663.2:g.150560110C>A | GRCh38 |
| NC_000001.10:g.150532586C>A , CM000663.1:g.150532586C>A | GRCh37 |
| NC_000001.9:g.148799210C>A | NCBI36 |
| NG_012172.1:g.15689C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271643.9:c.3139C>A MANE Select | ENSP00000271643.4:p.Arg1047= | |
| ENST00000674043.1:c.3208C>A | ENSP00000501295.1:p.Arg1070= | |
| ENST00000674058.1:c.3022C>A | ENSP00000501255.1:p.Arg1008= | |
| ENST00000271643.8:c.3139C>A | ENSP00000271643.4:p.Arg1047= | |
| ENST00000369038.6:c.3139C>A | ENSP00000358034.2:p.Arg1047= | |
| ENST00000369039.9:c.3208C>A | ENSP00000358035.5:p.Arg1070= | |
| ENST00000489159.1:n.976C>A | ||
| ENST00000622417.4:c.*443C>A | ENSP00000477897.1:n.*443C>A | |
| NM_001288607.1:c.3022C>A | NP_001275536.1:p.Arg1008= | |
| NM_001288608.1:c.3208C>A | NP_001275537.1:p.Arg1070= | |
| NM_019032.5:c.3139C>A | NP_061905.2:p.Arg1047= | |
| XM_011509644.1:c.3307C>A | XP_011507946.1:p.Arg1103= | |
| XM_011509645.1:c.3238C>A | XP_011507947.1:p.Arg1080= | |
| XM_011509646.1:c.3208C>A | XP_011507948.1:p.Arg1070= | |
| XM_011509647.1:c.3208C>A | XP_011507949.1:p.Arg1070= | |
| XM_011509648.1:c.3208C>A | XP_011507950.1:p.Arg1070= | |
| XM_011509651.1:c.1816C>A | XP_011507953.1:p.Arg606= | |
| XM_011509652.1:c.1816C>A | XP_011507954.1:p.Arg606= | |
| XR_921844.1:n.3708C>A | ||
| XM_011509644.3:c.3307C>A | XP_011507946.1:p.Arg1103= | |
| XM_011509645.3:c.3238C>A | XP_011507947.1:p.Arg1080= | |
| XM_011509648.3:c.3208C>A | XP_011507950.1:p.Arg1070= | |
| XM_011509651.2:c.1816C>A | XP_011507953.1:p.Arg606= | |
| XM_011509652.2:c.1816C>A | XP_011507954.1:p.Arg606= | |
| XM_017001506.2:c.3208C>A | XP_016856995.1:p.Arg1070= | |
| XM_017001507.1:c.1552C>A | XP_016856996.1:p.Arg518= | |
| XR_921844.3:n.3681C>A | ||
| NM_001288607.2:c.3022C>A | NP_001275536.1:p.Arg1008= | |
| NM_001288608.2:c.3208C>A | NP_001275537.1:p.Arg1070= | |
| NM_001378596.1:c.3139C>A | NP_001365525.1:p.Arg1047= | |
| NM_019032.6:c.3139C>A MANE Select | NP_061905.2:p.Arg1047= |