Linked Data
dbSNP Id:
rs782210937
ExAC:
X:154133314 G / GA
gnomAD v2:
X-154133314-G-GA
gnomAD v4:
X-154905039-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154905040dup , CM000685.2:g.154905040dup | GRCh38 |
| NC_000023.10:g.154133315dup , CM000685.1:g.154133315dup | GRCh37 |
| NC_000023.9:g.153786509dup | NCBI36 |
| NG_011403.1:g.122684dup | |
| NG_011403.2:g.122684dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5374-17dup MANE Select | ENSP00000353393.4:n.5374-17dup | |
| ENST00000360256.8:c.5374-17dup | ENSP00000353393.4:n.5374-17dup | |
| NM_000132.3:c.5374-17dup | NP_000123.1:n.5374-17dup | |
| XM_011531126.1:c.5269-17dup | XP_011529428.1:n.5269-17dup | |
| NM_000132.4:c.5374-17dup MANE Select | NP_000123.1:n.5374-17dup |