Linked Data
ClinVar Variation Id:
381746
dbSNP Id:
rs781691587
ExAC:
1:150531472 G / A
gnomAD v2:
1-150531472-G-A
gnomAD v3:
1-150558996-G-A
gnomAD v4:
1-150558996-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150558996G>A , CM000663.2:g.150558996G>A | GRCh38 |
| NC_000001.10:g.150531472G>A , CM000663.1:g.150531472G>A | GRCh37 |
| NC_000001.9:g.148798096G>A | NCBI36 |
| NG_012172.1:g.14575G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271643.9:c.2594G>A MANE Select | ENSP00000271643.4:p.Arg865His | |
| ENST00000674043.1:c.2663G>A | ENSP00000501295.1:p.Arg888His | |
| ENST00000674058.1:c.2477G>A | ENSP00000501255.1:p.Arg826His | |
| ENST00000271643.8:c.2594G>A | ENSP00000271643.4:p.Arg865His | |
| ENST00000369038.6:c.2594G>A | ENSP00000358034.2:p.Arg865His | |
| ENST00000369039.9:c.2663G>A | ENSP00000358035.5:p.Arg888His | |
| ENST00000489159.1:n.431G>A | ||
| ENST00000622417.4:c.1208G>A | ENSP00000477897.1:p.Arg403His | |
| NM_001288607.1:c.2477G>A | NP_001275536.1:p.Arg826His | |
| NM_001288608.1:c.2663G>A | NP_001275537.1:p.Arg888His | |
| NM_019032.5:c.2594G>A | NP_061905.2:p.Arg865His | |
| XM_011509644.1:c.2762G>A | XP_011507946.1:p.Arg921His | |
| XM_011509645.1:c.2693G>A | XP_011507947.1:p.Arg898His | |
| XM_011509646.1:c.2663G>A | XP_011507948.1:p.Arg888His | |
| XM_011509647.1:c.2663G>A | XP_011507949.1:p.Arg888His | |
| XM_011509648.1:c.2663G>A | XP_011507950.1:p.Arg888His | |
| XM_011509651.1:c.1271G>A | XP_011507953.1:p.Arg424His | |
| XM_011509652.1:c.1271G>A | XP_011507954.1:p.Arg424His | |
| XR_921844.1:n.3163G>A | ||
| XM_011509644.3:c.2762G>A | XP_011507946.1:p.Arg921His | |
| XM_011509645.3:c.2693G>A | XP_011507947.1:p.Arg898His | |
| XM_011509648.3:c.2663G>A | XP_011507950.1:p.Arg888His | |
| XM_011509651.2:c.1271G>A | XP_011507953.1:p.Arg424His | |
| XM_011509652.2:c.1271G>A | XP_011507954.1:p.Arg424His | |
| XM_017001506.2:c.2663G>A | XP_016856995.1:p.Arg888His | |
| XM_017001507.1:c.1007G>A | XP_016856996.1:p.Arg336His | |
| XR_921844.3:n.3136G>A | ||
| NM_001288607.2:c.2477G>A | NP_001275536.1:p.Arg826His | |
| NM_001288608.2:c.2663G>A | NP_001275537.1:p.Arg888His | |
| NM_001378596.1:c.2594G>A | NP_001365525.1:p.Arg865His | |
| NM_019032.6:c.2594G>A MANE Select | NP_061905.2:p.Arg865His |