Linked Data
ClinVar Variation Id:
3045533
ClinVar RCV Id:
RCV003949319
dbSNP Id:
rs141273695
ExAC:
X:38226544 G / A
gnomAD v2:
X-38226544-G-A
gnomAD v3:
X-38367291-G-A
gnomAD v4:
X-38367291-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367291G>A , CM000685.2:g.38367291G>A | GRCh38 |
| NC_000023.10:g.38226544G>A , CM000685.1:g.38226544G>A | GRCh37 |
| NC_000023.9:g.38111488G>A | NCBI36 |
| NG_008471.1:g.19809G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.78G>A MANE Select | ENSP00000039007.4:p.Arg26= | |
| ENST00000643344.1:c.78G>A | ENSP00000496606.1:p.Arg26= | |
| ENST00000039007.4:c.78G>A | ENSP00000039007.4:p.Arg26= | |
| ENST00000465127.1:c.172-298830G>A | ENSP00000417050.1:n.172-298830G>A | |
| ENST00000488812.1:n.170G>A | ||
| NM_000531.5:c.78G>A | NP_000522.3:p.Arg26= | |
| XM_017029556.1:c.78G>A | XP_016885045.1:p.Arg26= | |
| NM_000531.6:c.78G>A MANE Select | NP_000522.3:p.Arg26= |