Linked Data
dbSNP Id:
rs879322515
gnomAD v2:
13-47437117-T-TATTCTTTCTGGTATAACACTAGTTACC
gnomAD v3:
13-46862982-T-TATTCTTTCTGGTATAACACTAGTTACC
gnomAD v4:
13-46862982-T-TATTCTTTCTGGTATAACACTAGTTACC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46863012_46863038dup , CM000675.2:g.46863012_46863038dup | GRCh38 |
| NC_000013.10:g.47437147_47437173dup , CM000675.1:g.47437147_47437173dup | GRCh37 |
| NC_000013.9:g.46335148_46335174dup | NCBI36 |
| NG_013011.1:g.39026_39052dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000542664.4:c.614-27370_614-27344dup MANE Select | ENSP00000437737.1:n.614-27370_614-27344du... | |
| ENST00000543956.5:c.125-27370_125-27344dup | ENSP00000441861.2:n.125-27370_125-27344du... | |
| ENST00000378688.8:c.614-27370_614-27344dup | ENSP00000367959.3:n.614-27370_614-27344du... | |
| ENST00000542664.3:c.614-27370_614-27344dup | ENSP00000437737.1:n.614-27370_614-27344du... | |
| ENST00000543956.4:c.362-27370_362-27344dup | ENSP00000441861.1:n.362-27370_362-27344du... | |
| NM_000621.4:c.614-27370_614-27344dup | NP_000612.1:n.614-27370_614-27344dup | |
| NM_001165947.2:c.362-27370_362-27344dup | NP_001159419.1:n.362-27370_362-27344dup | |
| NM_000621.5:c.614-27370_614-27344dup MANE Select | NP_000612.1:n.614-27370_614-27344dup | |
| NM_001165947.5:c.125-27370_125-27344dup | NP_001159419.2:n.125-27370_125-27344dup | |
| NM_001378924.1:c.614-27370_614-27344dup | NP_001365853.1:n.614-27370_614-27344dup |