Linked Data
ClinVar Variation Id:
1520164
ClinVar RCV Id:
RCV002038550
dbSNP Id:
rs2147330536
gnomAD v4:
X-38381340-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38381340A>G , CM000685.2:g.38381340A>G | GRCh38 |
| NC_000023.10:g.38240593A>G , CM000685.1:g.38240593A>G | GRCh37 |
| NC_000023.9:g.38125537A>G | NCBI36 |
| NG_008471.1:g.33858A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.299-2A>G MANE Select | ENSP00000039007.4:n.299-2A>G | |
| ENST00000643344.1:c.*49-2A>G | ENSP00000496606.1:n.*49-2A>G | |
| ENST00000039007.4:c.299-2A>G | ENSP00000039007.4:n.299-2A>G | |
| ENST00000465127.1:c.172-284781A>G | ENSP00000417050.1:n.172-284781A>G | |
| ENST00000488812.1:n.354-20A>G | ||
| NM_000531.5:c.299-2A>G | NP_000522.3:n.299-2A>G | |
| XM_017029556.1:c.299-2A>G | XP_016885045.1:n.299-2A>G | |
| NM_000531.6:c.299-2A>G MANE Select | NP_000522.3:n.299-2A>G |