Linked Data
gnomAD v4:
15-74750110-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74750112dup , CM000677.2:g.74750112dup | GRCh38 |
| NC_000015.9:g.75042453dup , CM000677.1:g.75042453dup | GRCh37 |
| NC_000015.8:g.72829506dup | NCBI36 |
| NG_008431.1:g.32571dup | |
| NG_008431.2:g.32571dup | |
| NG_061543.1:g.6268dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.374dup MANE Select | ENSP00000342007.4:p.Ser126GlnfsTer27 | |
| ENST00000343932.4:c.374dup | ENSP00000342007.4:p.Ser126GlnfsTer27 | |
| NM_000761.4:c.374dup | NP_000752.2:p.Ser126GlnfsTer27 | |
| NM_000761.5:c.374dup MANE Select | NP_000752.2:p.Ser126GlnfsTer27 |