Linked Data
ClinVar Variation Id:
2909645
ClinVar RCV Id:
RCV003622184
dbSNP Id:
rs55903043
ExAC:
X:38268111 C / A
gnomAD v2:
X-38268111-C-A
gnomAD v3:
X-38408858-C-A
gnomAD v4:
X-38408858-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408858C>A , CM000685.2:g.38408858C>A | GRCh38 |
| NC_000023.10:g.38268111C>A , CM000685.1:g.38268111C>A | GRCh37 |
| NC_000023.9:g.38153055C>A | NCBI36 |
| NG_008471.1:g.61376C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.718-18C>A MANE Select | ENSP00000039007.4:n.718-18C>A | |
| ENST00000643344.1:c.*468-18C>A | ENSP00000496606.1:n.*468-18C>A | |
| ENST00000039007.4:c.718-18C>A | ENSP00000039007.4:n.718-18C>A | |
| ENST00000465127.1:c.172-257263C>A | ENSP00000417050.1:n.172-257263C>A | |
| NM_000531.5:c.718-18C>A | NP_000522.3:n.718-18C>A | |
| XM_017029556.1:c.718-18C>A | XP_016885045.1:n.718-18C>A | |
| NM_000531.6:c.718-18C>A MANE Select | NP_000522.3:n.718-18C>A |