Linked Data
ClinVar Variation Id:
67443
ClinVar RCV Id:
RCV000058170
RCV000182047
RCV000578446
RCV000794762
RCV001358716
RCV001841727
RCV004019010
dbSNP Id:
rs199473011
ExAC:
7:150644816 C / T
gnomAD v2:
7-150644816-C-T
gnomAD v3:
7-150947728-C-T
gnomAD v4:
7-150947728-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947728C>T , CM000669.2:g.150947728C>T | GRCh38 |
| NC_000007.13:g.150644816C>T , CM000669.1:g.150644816C>T | GRCh37 |
| NC_000007.12:g.150275749C>T | NCBI36 |
| NG_008916.1:g.35199G>A , LRG_288:g.35199G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3676G>A | ||
| ENST00000262186.10:c.2843G>A MANE Select | ENSP00000262186.5:p.Arg948His | |
| ENST00000330883.9:c.1823G>A | ENSP00000328531.4:p.Arg608His | |
| ENST00000262186.9:c.2843G>A | ENSP00000262186.5:p.Arg948His | |
| ENST00000330883.8:c.1823G>A | ENSP00000328531.4:p.Arg608His | |
| NM_000238.3:c.2843G>A , LRG_288t1:c.2843G>A | NP_000229.1:p.Arg948His | |
| NM_172057.2:c.1823G>A , LRG_288t3:c.1823G>A | NP_742054.1:p.Arg608His | |
| XM_011516185.1:c.2543G>A | XP_011514487.1:p.Arg848His | |
| XM_011516186.1:c.2693-37G>A | XP_011514488.1:n.2693-37G>A | |
| XM_011516185.2:c.2543G>A | XP_011514487.1:p.Arg848His | |
| XM_011516186.3:c.2693-37G>A | XP_011514488.1:n.2693-37G>A | |
| XM_017012195.1:c.2693G>A | XP_016867684.1:p.Arg898His | |
| XM_017012196.1:c.2666G>A | XP_016867685.1:p.Arg889His | |
| NM_000238.4:c.2843G>A MANE Select | NP_000229.1:p.Arg948His | |
| NM_172057.3:c.1823G>A | NP_742054.1:p.Arg608His |