Linked Data
ClinVar Variation Id:
17639
dbSNP Id:
rs121434542
gnomAD v2:
16-68719191-G-A
gnomAD v3:
16-68685288-G-A
gnomAD v4:
16-68685288-G-A
PubMed:
PMID:12445216
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68685288G>A , CM000678.2:g.68685288G>A | GRCh38 |
| NC_000016.9:g.68719191G>A , CM000678.1:g.68719191G>A | GRCh37 |
| NC_000016.8:g.67276692G>A | NCBI36 |
| NG_009096.1:g.46041G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264012.9:c.1508G>A MANE Select | ENSP00000264012.4:p.Arg503His | |
| ENST00000264012.8:c.1508G>A | ENSP00000264012.4:p.Arg503His | |
| ENST00000429102.6:c.1508G>A | ENSP00000398485.2:p.Arg503His | |
| ENST00000542274.5:c.*1246G>A | ENSP00000464021.1:n.*1246G>A | |
| NM_001793.4:c.1508G>A | NP_001784.2:p.Arg503His | |
| XM_011522800.1:c.1508G>A | XP_011521102.1:p.Arg503His | |
| NM_001317195.1:c.1508G>A | NP_001304124.1:p.Arg503His | |
| NM_001317196.1:c.1343G>A | NP_001304125.1:p.Arg448His | |
| NM_001793.5:c.1508G>A | NP_001784.2:p.Arg503His | |
| XM_011522800.3:c.1508G>A | XP_011521102.1:p.Arg503His | |
| NM_001793.6:c.1508G>A MANE Select | NP_001784.2:p.Arg503His | |
| NM_001317195.2:c.1508G>A | NP_001304124.1:p.Arg503His | |
| NM_001317196.2:c.1343G>A | NP_001304125.1:p.Arg448His | |
| NM_001317195.3:c.1508G>A | NP_001304124.1:p.Arg503His |