Linked Data
ClinVar Variation Id:
1307051
ClinVar RCV Id:
RCV001772509
dbSNP Id:
rs779869745
ExAC:
1:103444626 C / T
gnomAD v2:
1-103444626-C-T
gnomAD v4:
1-102979070-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102979070C>T , CM000663.2:g.102979070C>T | GRCh38 |
| NC_000001.10:g.103444626C>T , CM000663.1:g.103444626C>T | GRCh37 |
| NC_000001.9:g.103217214C>T | NCBI36 |
| NG_008033.1:g.134427G>A | |
| NG_008033.2:g.134427G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2645G>A MANE Select | ENSP00000359114.3:p.Arg882His | |
| ENST00000353414.8:c.2528G>A | ENSP00000302551.6:p.Arg843His | |
| ENST00000358392.6:c.2681G>A | ENSP00000351163.2:p.Arg894His | |
| ENST00000370096.7:c.2645G>A | ENSP00000359114.3:p.Arg882His | |
| ENST00000512756.5:c.2297G>A | ENSP00000426533.1:p.Arg766His | |
| ENST00000635193.1:c.1979G>A | ||
| NM_001190709.1:c.2528G>A | NP_001177638.1:p.Arg843His | |
| NM_001854.3:c.2645G>A | NP_001845.3:p.Arg882His | |
| NM_080629.2:c.2681G>A | NP_542196.2:p.Arg894His | |
| NM_080630.3:c.2297G>A | NP_542197.3:p.Arg766His | |
| XM_011540719.1:c.2645G>A | XP_011539021.1:p.Arg882His | |
| XM_011540720.1:c.878G>A | XP_011539022.1:p.Arg293His | |
| XM_011540721.1:c.233G>A | XP_011539023.1:p.Arg78His | |
| XR_946545.1:n.3059G>A | ||
| NR_134980.1:n.2979G>A | ||
| XM_017000334.1:c.2798G>A | XP_016855823.1:p.Arg933His | |
| XM_017000335.1:c.2792G>A | XP_016855824.1:p.Arg931His | |
| XM_017000336.1:c.2798G>A | XP_016855825.1:p.Arg933His | |
| XM_017000337.1:c.1196G>A | XP_016855826.1:p.Arg399His | |
| NM_001854.4:c.2645G>A MANE Select | NP_001845.3:p.Arg882His | |
| NM_080630.4:c.2297G>A | NP_542197.3:p.Arg766His | |
| NR_134980.2:n.3005G>A | ||
| NM_001190709.2:c.2528G>A | NP_001177638.1:p.Arg843His | |
| NM_080629.3:c.2681G>A | NP_542196.2:p.Arg894His |