Linked Data
dbSNP Id:
rs1028775175
gnomAD v2:
1-17662840-G-GA
gnomAD v3:
1-17336345-G-GA
gnomAD v4:
1-17336345-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17336348dup , CM000663.2:g.17336348dup | GRCh38 |
| NC_000001.10:g.17662843dup , CM000663.1:g.17662843dup | GRCh37 |
| NC_000001.9:g.17535430dup | NCBI36 |
| NG_023261.2:g.33159dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.408+122dup MANE Select | ENSP00000364597.4:n.408+122dup | |
| NM_012387.2:c.408+122dup | NP_036519.2:n.408+122dup | |
| XM_011541150.1:c.340+2339dup | XP_011539452.1:n.340+2339dup | |
| XM_011541151.1:c.408+122dup | XP_011539453.1:n.408+122dup | |
| XM_011541152.1:c.-12+122dup | XP_011539454.1:n.-12+122dup | |
| XM_011541153.1:c.408+122dup | XP_011539455.1:n.408+122dup | |
| XM_011541154.1:c.408+122dup | XP_011539456.1:n.408+122dup | |
| XM_011541155.1:c.408+122dup | XP_011539457.1:n.408+122dup | |
| XM_011541156.1:c.408+122dup | XP_011539458.1:n.408+122dup | |
| XM_011541157.1:c.-305+122dup | XP_011539459.1:n.-305+122dup | |
| XM_011541154.2:c.408+122dup | XP_011539456.1:n.408+122dup | |
| NM_012387.3:c.408+122dup MANE Select | NP_036519.2:n.408+122dup |