Linked Data
dbSNP Id:
rs2041056511
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152588_80152591dup , CM000677.2:g.80152588_80152591dup | GRCh38 |
| NC_000015.9:g.80444930_80444933dup , CM000677.1:g.80444930_80444933dup | GRCh37 |
| NC_000015.8:g.78231985_78231988dup | NCBI36 |
| NG_012833.1:g.4590_4593dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+43_-30+46dup | ENSP00000453152.1:n.-30+43_-30+46dup |