Linked Data
ClinVar Variation Id:
714364
ClinVar RCV Id:
RCV000886660
dbSNP Id:
rs782755297
ExAC:
X:153001626 G / A
gnomAD v2:
X-153001626-G-A
gnomAD v3:
X-153736172-G-A
gnomAD v4:
X-153736172-G-A
COSMIC:
COSM4658399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736172G>A , CM000685.2:g.153736172G>A | GRCh38 |
| NC_000023.10:g.153001626G>A , CM000685.1:g.153001626G>A | GRCh37 |
| NC_000023.9:g.152654820G>A | NCBI36 |
| NG_009022.2:g.16305G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1142G>A MANE Select | ENSP00000218104.3:p.Arg381His | |
| ENST00000218104.5:c.1142G>A | ENSP00000218104.3:p.Arg381His | |
| ENST00000443684.2:n.145G>A | ||
| NM_000033.3:c.1142G>A | NP_000024.2:p.Arg381His | |
| XR_938507.1:n.1558G>A | ||
| XR_938507.2:n.1558G>A | ||
| NM_000033.4:c.1142G>A MANE Select | NP_000024.2:p.Arg381His |