Linked Data
ClinVar Variation Id:
892933
dbSNP Id:
rs567922009
ExAC:
19:50796859 G / A
gnomAD v2:
19-50796859-G-A
gnomAD v3:
19-50293602-G-A
gnomAD v4:
19-50293602-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50293602G>A , CM000681.2:g.50293602G>A | GRCh38 |
| NC_000019.9:g.50796859G>A , CM000681.1:g.50796859G>A | GRCh37 |
| NC_000019.8:g.55488671G>A | NCBI36 |
| NG_011645.1:g.94975G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425460.6:c.5285G>A | ENSP00000407879.1:p.Arg1762His | |
| ENST00000642316.2:c.5384G>A MANE Select | ENSP00000493594.1:p.Arg1795His | |
| ENST00000262269.12:c.*745G>A | ENSP00000262269.9:n.*745G>A | |
| ENST00000376970.6:c.5261G>A | ENSP00000366169.3:p.Arg1754His | |
| ENST00000425460.5:c.5285G>A | ENSP00000407879.1:p.Arg1762His | |
| ENST00000440075.6:c.1190G>A | ENSP00000406273.3:p.Arg397His | |
| ENST00000595016.1:n.2563G>A | ||
| ENST00000596571.5:c.5261G>A | ENSP00000472819.1:p.Arg1754His | |
| ENST00000598205.5:c.5285G>A | ENSP00000472543.1:p.Arg1762His | |
| ENST00000601313.5:c.5384G>A | ENSP00000470298.1:p.Arg1795His | |
| NM_001077186.1:c.5285G>A | NP_001070654.1:p.Arg1762His | |
| NM_001145809.1:c.5384G>A | NP_001139281.1:p.Arg1795His | |
| NM_024729.3:c.5261G>A | NP_079005.3:p.Arg1754His | |
| XM_006723386.2:c.5285G>A | XP_006723449.1:p.Arg1762His | |
| XM_011527320.1:c.5405G>A | XP_011525622.1:p.Arg1802His | |
| XM_011527321.1:c.5381G>A | XP_011525623.1:p.Arg1794His | |
| XM_011527322.1:c.5309G>A | XP_011525624.1:p.Arg1770His | |
| XM_011527323.1:c.5285G>A | XP_011525625.1:p.Arg1762His | |
| XM_006723386.4:c.5285G>A | XP_006723449.1:p.Arg1762His | |
| XM_011527320.2:c.5405G>A | XP_011525622.1:p.Arg1802His | |
| XM_011527321.2:c.5381G>A | XP_011525623.1:p.Arg1794His | |
| XM_011527323.2:c.5285G>A | XP_011525625.1:p.Arg1762His | |
| XM_024451721.1:c.5261G>A | XP_024307489.1:p.Arg1754His | |
| NM_001077186.2:c.5285G>A | NP_001070654.1:p.Arg1762His | |
| NM_001145809.2:c.5384G>A MANE Select | NP_001139281.1:p.Arg1795His | |
| NM_024729.4:c.5261G>A | NP_079005.3:p.Arg1754His |