Linked Data
ClinVar Variation Id:
1250323
ClinVar RCV Id:
RCV001652573
dbSNP Id:
rs755821521
gnomAD v2:
X-38226427-C-CA
gnomAD v3:
X-38367174-C-CA
gnomAD v4:
X-38367174-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367188dup , CM000685.2:g.38367188dup | GRCh38 |
| NC_000023.10:g.38226441dup , CM000685.1:g.38226441dup | GRCh37 |
| NC_000023.9:g.38111385dup | NCBI36 |
| NG_008471.1:g.19706dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.78-103dup MANE Select | ENSP00000039007.4:n.78-103dup | |
| ENST00000643344.1:c.78-103dup | ENSP00000496606.1:n.78-103dup | |
| ENST00000039007.4:c.78-103dup | ENSP00000039007.4:n.78-103dup | |
| ENST00000465127.1:c.172-298933dup | ENSP00000417050.1:n.172-298933dup | |
| ENST00000488812.1:n.170-103dup | ||
| NM_000531.5:c.78-103dup | NP_000522.3:n.78-103dup | |
| XM_017029556.1:c.78-103dup | XP_016885045.1:n.78-103dup | |
| NM_000531.6:c.78-103dup MANE Select | NP_000522.3:n.78-103dup |