Linked Data
ClinVar Variation Id:
2724044
ClinVar RCV Id:
RCV003511139
dbSNP Id:
rs375464092
gnomAD v2:
X-38268112-G-A
gnomAD v4:
X-38408859-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408859G>A , CM000685.2:g.38408859G>A | GRCh38 |
| NC_000023.10:g.38268112G>A , CM000685.1:g.38268112G>A | GRCh37 |
| NC_000023.9:g.38153056G>A | NCBI36 |
| NG_008471.1:g.61377G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.718-17G>A MANE Select | ENSP00000039007.4:n.718-17G>A | |
| ENST00000643344.1:c.*468-17G>A | ENSP00000496606.1:n.*468-17G>A | |
| ENST00000039007.4:c.718-17G>A | ENSP00000039007.4:n.718-17G>A | |
| ENST00000465127.1:c.172-257262G>A | ENSP00000417050.1:n.172-257262G>A | |
| NM_000531.5:c.718-17G>A | NP_000522.3:n.718-17G>A | |
| XM_017029556.1:c.718-17G>A | XP_016885045.1:n.718-17G>A | |
| NM_000531.6:c.718-17G>A MANE Select | NP_000522.3:n.718-17G>A |