Linked Data
gnomAD v4:
3-129532293-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532294dup , CM000665.2:g.129532294dup | GRCh38 |
| NC_000003.11:g.129251137dup , CM000665.1:g.129251137dup | GRCh37 |
| NC_000003.10:g.130733827dup | NCBI36 |
| NG_009115.1:g.8656dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.574dup MANE Select | ENSP00000296271.3:p.Tyr192LeufsTer? | |
| ENST00000296271.3:c.574dup | ENSP00000296271.3:p.Tyr192LeufsTer? | |
| NM_000539.3:c.574dup MANE Select | NP_000530.1:p.Tyr192LeufsTer? |