Linked Data
dbSNP Id:
rs780827190
gnomAD v2:
X-38229247-A-AT
gnomAD v3:
X-38369994-A-AT
gnomAD v4:
X-38369994-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38369999dup , CM000685.2:g.38369999dup | GRCh38 |
| NC_000023.10:g.38229252dup , CM000685.1:g.38229252dup | GRCh37 |
| NC_000023.9:g.38114196dup | NCBI36 |
| NG_008471.1:g.22517dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.298+122dup MANE Select | ENSP00000039007.4:n.298+122dup | |
| ENST00000643344.1:c.298+122dup | ENSP00000496606.1:n.298+122dup | |
| ENST00000039007.4:c.298+122dup | ENSP00000039007.4:n.298+122dup | |
| ENST00000465127.1:c.172-296122dup | ENSP00000417050.1:n.172-296122dup | |
| ENST00000488812.1:n.353+159dup | ||
| NM_000531.5:c.298+122dup | NP_000522.3:n.298+122dup | |
| XM_017029556.1:c.298+122dup | XP_016885045.1:n.298+122dup | |
| NM_000531.6:c.298+122dup MANE Select | NP_000522.3:n.298+122dup |