Linked Data
dbSNP Id:
rs763059632
ExAC:
1:193173026 G / GT
gnomAD v2:
1-193173026-G-GT
gnomAD v4:
1-193203896-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193203897dup , CM000663.2:g.193203897dup | GRCh38 |
| NC_000001.10:g.193173027dup , CM000663.1:g.193173027dup | GRCh37 |
| NC_000001.9:g.191439650dup | NCBI36 |
| NG_012691.1:g.86940dup , LRG_507:g.86940dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1030+45dup MANE Select | ENSP00000356405.4:n.1030+45dup | |
| ENST00000635846.1:c.787+45dup | ENSP00000490035.1:n.787+45dup | |
| ENST00000643006.1:c.1098+45dup | ENSP00000496633.1:n.1098+45dup | |
| ENST00000648071.1:c.*1006+45dup | ENSP00000497513.1:n.*1006+45dup | |
| ENST00000649613.1:n.280+45dup | ||
| ENST00000649895.1:n.1248+45dup | ||
| ENST00000650197.1:c.1030+45dup | ENSP00000496929.1:n.1030+45dup | |
| ENST00000367435.3:c.1030+45dup | ENSP00000356405.3:n.1030+45dup | |
| NM_024529.4:c.1030+45dup , LRG_507t1:c.1030+45dup | NP_078805.3:n.1030+45dup | |
| NM_024529.5:c.1030+45dup MANE Select | NP_078805.3:n.1030+45dup |