Linked Data
ClinVar Variation Id:
10048
ClinVar RCV Id:
RCV000010748
dbSNP Id:
rs137852491
gnomAD v4:
X-134473465-G-A
PubMed:
PMID:2347587
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134473465G>A , CM000685.2:g.134473465G>A | GRCh38 |
| NC_000023.10:g.133607495G>A , CM000685.1:g.133607495G>A | GRCh37 |
| NC_000023.9:g.133435161G>A | NCBI36 |
| NG_012329.1:g.18321G>A | |
| NG_012329.2:g.18321G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298556.8:c.134G>A MANE Select | ENSP00000298556.7:p.Arg45Lys | |
| ENST00000298556.7:c.134G>A | ENSP00000298556.7:p.Arg45Lys | |
| ENST00000462974.5:n.292G>A | ||
| ENST00000475720.1:n.92G>A | ||
| NM_000194.2:c.134G>A | NP_000185.1:p.Arg45Lys | |
| XM_011531328.1:c.152G>A | XP_011529630.1:p.Arg51Lys | |
| NM_000194.3:c.134G>A MANE Select | NP_000185.1:p.Arg45Lys |