Linked Data
dbSNP Id:
rs202054440
gnomAD v2:
19-11342785-A-AG
gnomAD v3:
19-11232109-A-AG
gnomAD v4:
19-11232109-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11232110dup , CM000681.2:g.11232110dup | GRCh38 |
| NC_000019.9:g.11342786dup , CM000681.1:g.11342786dup | GRCh37 |
| NC_000019.8:g.11203786dup | NCBI36 |
| NG_031953.1:g.35383dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.2823+75dup | ENSP00000468638.2:n.2823+75dup | |
| ENST00000294618.12:c.2718+1093dup MANE Select | ENSP00000294618.6:n.2718+1093dup | |
| ENST00000294618.11:c.2718+1093dup | ENSP00000294618.6:n.2718+1093dup | |
| ENST00000585904.1:c.426+75dup | ENSP00000465767.1:n.426+75dup | |
| ENST00000587656.5:c.583+75dup | ||
| ENST00000590680.5:c.1061+1093dup | ||
| NM_020812.3:c.2718+1093dup | NP_065863.2:n.2718+1093dup | |
| XM_005260000.2:c.2823+75dup | XP_005260057.1:n.2823+75dup | |
| XM_005260001.2:c.2823+75dup | XP_005260058.1:n.2823+75dup | |
| XM_006722804.2:c.54+929dup | XP_006722867.1:n.54+929dup | |
| XM_011528150.1:c.2856+75dup | XP_011526452.1:n.2856+75dup | |
| XM_011528151.1:c.2751+1093dup | XP_011526453.1:n.2751+1093dup | |
| XM_011528152.1:c.2751+1093dup | XP_011526454.1:n.2751+1093dup | |
| XM_011528153.1:c.2856+75dup | XP_011526455.1:n.2856+75dup | |
| XR_936195.1:n.2917+75dup | ||
| XR_936196.1:n.2812+1093dup | ||
| XR_936197.1:n.2917+75dup | ||
| XR_936198.1:n.2812+1093dup | ||
| XM_006722804.3:c.54+929dup | XP_006722867.1:n.54+929dup | |
| NM_001367830.1:c.2823+75dup | NP_001354759.1:n.2823+75dup | |
| NM_020812.4:c.2718+1093dup MANE Select | NP_065863.2:n.2718+1093dup |