Linked Data
dbSNP Id:
rs1338859170
gnomAD v2:
19-11330822-G-GT
gnomAD v3:
19-11220146-G-GT
gnomAD v4:
19-11220146-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11220150dup , CM000681.2:g.11220150dup | GRCh38 |
| NC_000019.9:g.11330826dup , CM000681.1:g.11330826dup | GRCh37 |
| NC_000019.8:g.11191826dup | NCBI36 |
| NG_031953.1:g.47346dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.3655+1704dup | ENSP00000468638.2:n.3655+1704dup | |
| ENST00000294618.12:c.3550+1704dup MANE Select | ENSP00000294618.6:n.3550+1704dup | |
| ENST00000294618.11:c.3550+1704dup | ENSP00000294618.6:n.3550+1704dup | |
| ENST00000587656.5:c.1415+1704dup | ||
| NM_020812.3:c.3550+1704dup | NP_065863.2:n.3550+1704dup | |
| XM_005260000.2:c.3748+1704dup | XP_005260057.1:n.3748+1704dup | |
| XM_005260001.2:c.3655+1704dup | XP_005260058.1:n.3655+1704dup | |
| XM_006722804.2:c.886+1704dup | XP_006722867.1:n.886+1704dup | |
| XM_011528150.1:c.3688+1704dup | XP_011526452.1:n.3688+1704dup | |
| XM_011528151.1:c.3676+1704dup | XP_011526453.1:n.3676+1704dup | |
| XM_011528152.1:c.3583+1704dup | XP_011526454.1:n.3583+1704dup | |
| XM_011528153.1:c.3688+1704dup | XP_011526455.1:n.3688+1704dup | |
| XR_936195.1:n.3749+1704dup | ||
| XR_936196.1:n.3766+1704dup | ||
| XM_006722804.3:c.886+1704dup | XP_006722867.1:n.886+1704dup | |
| NM_001367830.1:c.3655+1704dup | NP_001354759.1:n.3655+1704dup | |
| NM_020812.4:c.3550+1704dup MANE Select | NP_065863.2:n.3550+1704dup |