Linked Data
dbSNP Id:
rs1406793765
gnomAD v2:
19-18898115-G-GT
gnomAD v3:
19-18787306-G-GT
gnomAD v4:
19-18787306-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787311dup , CM000681.2:g.18787311dup | GRCh38 |
| NC_000019.9:g.18898120dup , CM000681.1:g.18898120dup | GRCh37 |
| NC_000019.8:g.18759120dup | NCBI36 |
| NG_007070.1:g.8999dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1135+184dup MANE Select | ENSP00000222271.2:n.1135+184dup | |
| ENST00000222271.6:c.1135+184dup | ENSP00000222271.2:n.1135+184dup | |
| ENST00000425807.1:c.976+184dup | ENSP00000403792.1:n.976+184dup | |
| ENST00000542601.6:c.1036+184dup | ENSP00000439156.2:n.1036+184dup | |
| NM_000095.2:c.1135+184dup | NP_000086.2:n.1135+184dup | |
| NM_000095.3:c.1135+184dup MANE Select | NP_000086.2:n.1135+184dup |