Linked Data
dbSNP Id:
rs782301780
ExAC:
19:8645811 C / T
gnomAD v2:
19-8645811-C-T
gnomAD v4:
19-8580927-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8580927C>T , CM000681.2:g.8580927C>T | GRCh38 |
| NC_000019.9:g.8645811C>T , CM000681.1:g.8645811C>T | GRCh37 |
| NC_000019.8:g.8551811C>T | NCBI36 |
| NG_011840.2:g.34776G>A | |
| NG_052844.1:g.1521G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597188.6:c.3278G>A MANE Select | ENSP00000471851.1:p.Arg1093His | |
| ENST00000270328.8:c.3278G>A | ENSP00000270328.4:p.Arg1093His | |
| ENST00000593913.5:c.*2155G>A | ENSP00000469901.1:n.*2155G>A | |
| ENST00000595838.5:c.1739G>A | ENSP00000470501.1:p.Arg580His | |
| ENST00000597188.5:c.3278G>A | ENSP00000471851.1:p.Arg1093His | |
| NM_001282352.1:c.1739G>A | NP_001269281.1:p.Arg580His | |
| NM_030957.3:c.3278G>A | NP_112219.3:p.Arg1093His | |
| XM_006722917.2:c.2321G>A | XP_006722980.1:p.Arg774His | |
| XM_011528331.1:c.3425G>A | XP_011526633.1:p.Arg1142His | |
| XM_011528332.1:c.3425G>A | XP_011526634.1:p.Arg1142His | |
| XM_011528333.1:c.3425G>A | XP_011526635.1:p.Arg1142His | |
| XM_011528334.1:c.3101G>A | XP_011526636.1:p.Arg1034His | |
| XM_011528335.1:c.1994G>A | XP_011526637.1:p.Arg665His | |
| XM_011528336.1:c.1988G>A | XP_011526638.1:p.Arg663His | |
| XM_006722917.3:c.2321G>A | XP_006722980.1:p.Arg774His | |
| XM_017027338.2:c.3278G>A | XP_016882827.1:p.Arg1093His | |
| XM_017027339.1:c.1847G>A | XP_016882828.1:p.Arg616His | |
| XM_017027340.1:c.1841G>A | XP_016882829.1:p.Arg614His | |
| NM_030957.4:c.3278G>A MANE Select | NP_112219.3:p.Arg1093His | |
| NM_001282352.2:c.1739G>A | NP_001269281.1:p.Arg580His |