Linked Data
ClinVar Variation Id:
97339
dbSNP Id:
rs66724222
gnomAD v4:
X-38408988-G-A
PubMed:
PMID:7951259
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408988G>A , CM000685.2:g.38408988G>A | GRCh38 |
| NC_000023.10:g.38268241G>A , CM000685.1:g.38268241G>A | GRCh37 |
| NC_000023.9:g.38153185G>A | NCBI36 |
| NG_008471.1:g.61506G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.830G>A MANE Select | ENSP00000039007.4:p.Arg277Gln | |
| ENST00000643344.1:c.*580G>A | ENSP00000496606.1:n.*580G>A | |
| ENST00000039007.4:c.830G>A | ENSP00000039007.4:p.Arg277Gln | |
| ENST00000465127.1:c.172-257133G>A | ENSP00000417050.1:n.172-257133G>A | |
| NM_000531.5:c.830G>A | NP_000522.3:p.Arg277Gln | |
| XM_017029556.1:c.830G>A | XP_016885045.1:p.Arg277Gln | |
| NM_000531.6:c.830G>A MANE Select | NP_000522.3:p.Arg277Gln |