Linked Data
dbSNP Id:
rs1052725806
gnomAD v2:
12-52306154-C-CA
gnomAD v3:
12-51912370-C-CA
gnomAD v4:
12-51912370-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51912378dup , CM000674.2:g.51912378dup | GRCh38 |
| NC_000012.11:g.52306162dup , CM000674.1:g.52306162dup | GRCh37 |
| NC_000012.10:g.50592429dup | NCBI36 |
| NG_009549.1:g.9961dup , LRG_543:g.9961dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.-55dup | ENSP00000446724.2:n.-55dup | |
| ENST00000551576.6:c.-5-92dup | ENSP00000455848.2:n.-5-92dup | |
| ENST00000552678.2:c.-5-92dup | ENSP00000457394.2:n.-5-92dup | |
| ENST00000388922.9:c.-5-92dup MANE Select | ENSP00000373574.4:n.-5-92dup | |
| ENST00000388922.8:c.-5-92dup | ENSP00000373574.4:n.-5-92dup | |
| ENST00000419526.6:c.-55dup | ENSP00000392492.2:n.-55dup | |
| ENST00000547400.5:c.-55dup | ENSP00000446724.1:n.-55dup | |
| ENST00000550683.5:c.-55dup | ENSP00000447884.1:n.-55dup | |
| ENST00000551576.5:c.-5-92dup | ENSP00000455848.1:n.-5-92dup | |
| NM_000020.2:c.-5-92dup , LRG_543t1:c.-5-92dup | NP_000011.2:n.-5-92dup | |
| NM_001077401.1:c.-97dup | NP_001070869.1:n.-97dup | |
| XM_005269235.2:c.-5-92dup | XP_005269292.1:n.-5-92dup | |
| XM_011539008.1:c.-55dup | XP_011537310.1:n.-55dup | |
| NM_000020.3:c.-5-92dup MANE Select | NP_000011.2:n.-5-92dup |