Linked Data
ClinVar Variation Id:
1586506
dbSNP Id:
rs104886285
ExAC:
X:107935999 G / A
gnomAD v2:
X-107935999-G-A
gnomAD v3:
X-108692769-G-A
gnomAD v4:
X-108692769-G-A
PubMed:
PMID:10684360
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108692769G>A , CM000685.2:g.108692769G>A | GRCh38 |
| NC_000023.10:g.107935999G>A , CM000685.1:g.107935999G>A | GRCh37 |
| NC_000023.9:g.107822655G>A | NCBI36 |
| NG_011977.1:g.257846G>A | |
| NG_011977.2:g.257846G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.4550G>A MANE Select | ENSP00000331902.7:p.Arg1517His | |
| ENST00000361603.7:c.4532G>A | ENSP00000354505.2:p.Arg1511His | |
| ENST00000510690.2:n.1044G>A | ||
| ENST00000328300.10:c.4550G>A | ENSP00000331902.6:p.Arg1517His | |
| ENST00000361603.6:c.4532G>A | ENSP00000354505.2:p.Arg1511His | |
| ENST00000515658.1:c.325-3528G>A | ||
| NM_000495.4:c.4532G>A | NP_000486.1:p.Arg1511His | |
| NM_033380.2:c.4550G>A | NP_203699.1:p.Arg1517His | |
| XM_005262070.2:c.4541G>A | XP_005262127.1:p.Arg1514His | |
| XM_006724616.2:c.4550G>A | XP_006724679.1:p.Arg1517His | |
| XM_011530849.1:c.4226G>A | XP_011529151.1:p.Arg1409His | |
| XM_011530851.1:c.2123G>A | XP_011529153.1:p.Arg708His | |
| XM_011530849.2:c.4565G>A | XP_011529151.2:p.Arg1522His | |
| XM_017029259.2:c.4556G>A | XP_016884748.1:p.Arg1519His | |
| XM_017029260.1:c.4547G>A | XP_016884749.1:p.Arg1516His | |
| XM_017029263.2:c.2885G>A | XP_016884752.1:p.Arg962His | |
| NM_000495.5:c.4532G>A | NP_000486.1:p.Arg1511His | |
| NM_033380.3:c.4550G>A MANE Select | NP_203699.1:p.Arg1517His |