Linked Data
dbSNP Id:
rs776450871
ExAC:
19:15297839 G / GC
gnomAD v2:
19-15297839-G-GC
gnomAD v3:
19-15187028-G-GC
gnomAD v4:
19-15187028-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15187032dup , CM000681.2:g.15187032dup | GRCh38 |
| NC_000019.9:g.15297843dup , CM000681.1:g.15297843dup | GRCh37 |
| NC_000019.8:g.15158843dup | NCBI36 |
| NG_009819.1:g.18953dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.1841-41dup MANE Select | ENSP00000263388.1:n.1841-41dup | |
| ENST00000263388.6:c.1841-41dup | ENSP00000263388.1:n.1841-41dup | |
| ENST00000601011.1:c.1838-41dup | ENSP00000473138.1:n.1838-41dup | |
| NM_000435.2:c.1841-41dup | NP_000426.2:n.1841-41dup | |
| XM_005259924.3:c.1841-41dup | XP_005259981.1:n.1841-41dup | |
| XM_005259924.4:c.1841-41dup | XP_005259981.1:n.1841-41dup | |
| NM_000435.3:c.1841-41dup MANE Select | NP_000426.2:n.1841-41dup |