Linked Data
dbSNP Id:
rs763945939
ExAC:
11:71941409 G / A
gnomAD v2:
11-71941409-G-A
gnomAD v3:
11-72230365-G-A
gnomAD v4:
11-72230365-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72230365G>A , CM000673.2:g.72230365G>A | GRCh38 |
| NC_000011.9:g.71941409G>A , CM000673.1:g.71941409G>A | GRCh37 |
| NC_000011.8:g.71619057G>A | NCBI36 |
| NG_023253.1:g.10528G>A | |
| NG_023253.2:g.10528G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.1094G>A MANE Select | ENSP00000298229.2:p.Arg365His | |
| ENST00000298229.6:c.1094G>A | ENSP00000298229.2:p.Arg365His | |
| ENST00000538751.5:c.368G>A | ENSP00000444619.1:p.Arg123His | |
| ENST00000540329.5:c.278G>A | ENSP00000440018.1:p.Arg93His | |
| ENST00000541756.5:c.896G>A | ENSP00000446360.2:p.Arg299His | |
| NM_001567.3:c.1094G>A | NP_001558.3:p.Arg365His | |
| XM_005273978.3:c.1160G>A | XP_005274035.1:p.Arg387His | |
| XM_005273979.3:c.1160G>A | XP_005274036.1:p.Arg387His | |
| XM_011544999.1:c.1094G>A | XP_011543301.1:p.Arg365His | |
| XM_011545000.1:c.1160G>A | XP_011543302.1:p.Arg387His | |
| XM_005273979.4:c.1160G>A | XP_005274036.1:p.Arg387His | |
| XM_011544999.2:c.1094G>A | XP_011543301.1:p.Arg365His | |
| XM_024448501.1:c.1160G>A | XP_024304269.1:p.Arg387His | |
| XM_024448502.1:c.1160G>A | XP_024304270.1:p.Arg387His | |
| XM_024448503.1:c.1130G>A | XP_024304271.1:p.Arg377His | |
| XM_024448504.1:c.1094G>A | XP_024304272.1:p.Arg365His | |
| XM_024448505.1:c.1160G>A | XP_024304273.1:p.Arg387His | |
| NM_001567.4:c.1094G>A MANE Select | NP_001558.3:p.Arg365His |