Linked Data
ClinVar Variation Id:
205071
ClinVar RCV Id:
RCV001347661
dbSNP Id:
rs79646221
ExAC:
1:154543994 G / A
gnomAD v2:
1-154543994-G-A
gnomAD v3:
1-154571518-G-A
gnomAD v4:
1-154571518-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571518G>A , CM000663.2:g.154571518G>A | GRCh38 |
| NC_000001.10:g.154543994G>A , CM000663.1:g.154543994G>A | GRCh37 |
| NC_000001.9:g.152810618G>A | NCBI36 |
| NG_008027.1:g.8738G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368476.4:c.695G>A MANE Select | ENSP00000357461.3:p.Arg232His | |
| ENST00000636034.1:c.695G>A | ENSP00000489703.1:p.Arg232His | |
| ENST00000637900.1:c.701G>A | ENSP00000490474.1:p.Arg234His | |
| ENST00000368476.3:c.695G>A | ENSP00000357461.3:p.Arg232His | |
| NM_000748.2:c.695G>A | NP_000739.1:p.Arg232His | |
| XM_017000180.2:c.185G>A | XP_016855669.1:p.Arg62His | |
| XR_001736952.2:n.947G>A | ||
| NM_000748.3:c.695G>A MANE Select | NP_000739.1:p.Arg232His |