Linked Data
dbSNP Id:
rs763559328
ExAC:
X:38226521 C / A
gnomAD v2:
X-38226521-C-A
gnomAD v4:
X-38367268-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367268C>A , CM000685.2:g.38367268C>A | GRCh38 |
| NC_000023.10:g.38226521C>A , CM000685.1:g.38226521C>A | GRCh37 |
| NC_000023.9:g.38111465C>A | NCBI36 |
| NG_008471.1:g.19786C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.78-23C>A MANE Select | ENSP00000039007.4:n.78-23C>A | |
| ENST00000643344.1:c.78-23C>A | ENSP00000496606.1:n.78-23C>A | |
| ENST00000039007.4:c.78-23C>A | ENSP00000039007.4:n.78-23C>A | |
| ENST00000465127.1:c.172-298853C>A | ENSP00000417050.1:n.172-298853C>A | |
| ENST00000488812.1:n.170-23C>A | ||
| NM_000531.5:c.78-23C>A | NP_000522.3:n.78-23C>A | |
| XM_017029556.1:c.78-23C>A | XP_016885045.1:n.78-23C>A | |
| NM_000531.6:c.78-23C>A MANE Select | NP_000522.3:n.78-23C>A |