Linked Data
ClinVar Variation Id:
2915821
ClinVar RCV Id:
RCV003622310
dbSNP Id:
rs751199337
ExAC:
X:38229034 G / A
gnomAD v2:
X-38229034-G-A
gnomAD v4:
X-38369781-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38369781G>A , CM000685.2:g.38369781G>A | GRCh38 |
| NC_000023.10:g.38229034G>A , CM000685.1:g.38229034G>A | GRCh37 |
| NC_000023.9:g.38113978G>A | NCBI36 |
| NG_008471.1:g.22299G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.217-15G>A MANE Select | ENSP00000039007.4:n.217-15G>A | |
| ENST00000643344.1:c.217-15G>A | ENSP00000496606.1:n.217-15G>A | |
| ENST00000039007.4:c.217-15G>A | ENSP00000039007.4:n.217-15G>A | |
| ENST00000465127.1:c.172-296340G>A | ENSP00000417050.1:n.172-296340G>A | |
| ENST00000488812.1:n.309-15G>A | ||
| NM_000531.5:c.217-15G>A | NP_000522.3:n.217-15G>A | |
| XM_017029556.1:c.217-15G>A | XP_016885045.1:n.217-15G>A | |
| NM_000531.6:c.217-15G>A MANE Select | NP_000522.3:n.217-15G>A |