Linked Data
ClinVar Variation Id:
1448249
ClinVar RCV Id:
RCV002002204
dbSNP Id:
rs2042408162
gnomAD v4:
19-8585157-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8585157C>T , CM000681.2:g.8585157C>T | GRCh38 |
| NC_000019.9:g.8650041C>T , CM000681.1:g.8650041C>T | GRCh37 |
| NC_000019.8:g.8556041C>T | NCBI36 |
| NG_011840.2:g.30546G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597188.6:c.3017G>A MANE Select | ENSP00000471851.1:p.Arg1006His | |
| ENST00000270328.8:c.3017G>A | ENSP00000270328.4:p.Arg1006His | |
| ENST00000593913.5:c.*1894G>A | ENSP00000469901.1:n.*1894G>A | |
| ENST00000595838.5:c.1478G>A | ENSP00000470501.1:p.Arg493His | |
| ENST00000596851.5:c.*2299G>A | ENSP00000469559.1:n.*2299G>A | |
| ENST00000597188.5:c.3017G>A | ENSP00000471851.1:p.Arg1006His | |
| NM_001282352.1:c.1478G>A | NP_001269281.1:p.Arg493His | |
| NM_030957.3:c.3017G>A | NP_112219.3:p.Arg1006His | |
| XM_006722917.2:c.2060G>A | XP_006722980.1:p.Arg687His | |
| XM_011528331.1:c.3164G>A | XP_011526633.1:p.Arg1055His | |
| XM_011528332.1:c.3164G>A | XP_011526634.1:p.Arg1055His | |
| XM_011528333.1:c.3164G>A | XP_011526635.1:p.Arg1055His | |
| XM_011528334.1:c.2866-103G>A | XP_011526636.1:n.2866-103G>A | |
| XM_011528335.1:c.1733G>A | XP_011526637.1:p.Arg578His | |
| XM_011528336.1:c.1727G>A | XP_011526638.1:p.Arg576His | |
| XM_006722917.3:c.2060G>A | XP_006722980.1:p.Arg687His | |
| XM_017027338.2:c.3017G>A | XP_016882827.1:p.Arg1006His | |
| XM_017027339.1:c.1586G>A | XP_016882828.1:p.Arg529His | |
| XM_017027340.1:c.1580G>A | XP_016882829.1:p.Arg527His | |
| NM_030957.4:c.3017G>A MANE Select | NP_112219.3:p.Arg1006His | |
| NM_001282352.2:c.1478G>A | NP_001269281.1:p.Arg493His |