Linked Data
ClinVar Variation Id:
1655516
ClinVar RCV Id:
RCV002158983
dbSNP Id:
rs72558440
ExAC:
X:38268175 A / G
gnomAD v2:
X-38268175-A-G
gnomAD v3:
X-38408922-A-G
gnomAD v4:
X-38408922-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408922A>G , CM000685.2:g.38408922A>G | GRCh38 |
| NC_000023.10:g.38268175A>G , CM000685.1:g.38268175A>G | GRCh37 |
| NC_000023.9:g.38153119A>G | NCBI36 |
| NG_008471.1:g.61440A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.764A>G MANE Select | ENSP00000039007.4:p.His255Arg | |
| ENST00000643344.1:c.*514A>G | ENSP00000496606.1:n.*514A>G | |
| ENST00000039007.4:c.764A>G | ENSP00000039007.4:p.His255Arg | |
| ENST00000465127.1:c.172-257199A>G | ENSP00000417050.1:n.172-257199A>G | |
| NM_000531.5:c.764A>G | NP_000522.3:p.His255Arg | |
| XM_017029556.1:c.764A>G | XP_016885045.1:p.His255Arg | |
| NM_000531.6:c.764A>G MANE Select | NP_000522.3:p.His255Arg |