Linked Data
gnomAD v4:
7-73683018-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73683022dup , CM000669.2:g.73683022dup | GRCh38 |
| NC_000007.13:g.73097352dup , CM000669.1:g.73097352dup | GRCh37 |
| NC_000007.12:g.72735288dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.405dup MANE Select | ENSP00000378605.1:p.Gly136ArgfsTer30 | |
| ENST00000395176.2:c.405dup | ENSP00000378605.1:p.Gly136ArgfsTer30 | |
| NM_032317.2:c.405dup | NP_115693.2:p.Gly136ArgfsTer30 | |
| NM_032317.3:c.405dup MANE Select | NP_115693.2:p.Gly136ArgfsTer30 |