Linked Data
ClinVar Variation Id:
316670
dbSNP Id:
rs776858148
ExAC:
15:58853049 G / GTC
gnomAD v2:
15-58853049-G-GTC
gnomAD v3:
15-58560850-G-GTC
gnomAD v4:
15-58560850-G-GTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58560860_58560861dup , CM000677.2:g.58560860_58560861dup | GRCh38 |
| NC_000015.9:g.58853059_58853060dup , CM000677.1:g.58853059_58853060dup | GRCh37 |
| NC_000015.8:g.56640351_56640352dup | NCBI36 |
| NG_011465.1:g.133885_133886dup | |
| NG_011465.2:g.133885_133886dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299022.10:c.1052-4_1052-3dup MANE Select | ENSP00000299022.5:n.1052-4_1052-3dup | |
| ENST00000299022.9:c.1052-4_1052-3dup | ENSP00000299022.5:n.1052-4_1052-3dup | |
| ENST00000356113.10:c.1052-4_1052-3dup | ENSP00000348425.6:n.1052-4_1052-3dup | |
| ENST00000414170.7:c.1052-4_1052-3dup | ENSP00000395569.3:n.1052-4_1052-3dup | |
| ENST00000433326.2:c.869-4_869-3dup | ENSP00000395002.2:n.869-4_869-3dup | |
| ENST00000559845.5:n.909-4_909-3dup | ||
| NM_000236.2:c.1052-4_1052-3dup | NP_000227.2:n.1052-4_1052-3dup | |
| XM_005254372.1:c.1052-4_1052-3dup | XP_005254429.1:n.1052-4_1052-3dup | |
| XM_005254374.3:c.989-4_989-3dup | XP_005254431.1:n.989-4_989-3dup | |
| XM_006720502.2:c.911-4_911-3dup | XP_006720565.1:n.911-4_911-3dup | |
| XM_005254374.4:c.1088-4_1088-3dup | XP_005254431.2:n.1088-4_1088-3dup | |
| XM_006720502.4:c.911-4_911-3dup | XP_006720565.1:n.911-4_911-3dup | |
| XM_024449916.1:c.1052-4_1052-3dup | XP_024305684.1:n.1052-4_1052-3dup | |
| XM_024449917.1:c.1052-4_1052-3dup | XP_024305685.1:n.1052-4_1052-3dup | |
| NM_000236.3:c.1052-4_1052-3dup MANE Select | NP_000227.2:n.1052-4_1052-3dup |