Linked Data
gnomAD v4:
18-60371470-T-TAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371474_60371475dup , CM000680.2:g.60371474_60371475dup | GRCh38 |
| NC_000018.9:g.58038707_58038708dup , CM000680.1:g.58038707_58038708dup | GRCh37 |
| NC_000018.8:g.56189687_56189688dup | NCBI36 |
| NG_016441.1:g.6297_6298dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.878_879dup MANE Select | ENSP00000299766.3:p.Asn294ValfsTer8 | |
| ENST00000299766.4:c.878_879dup | ENSP00000299766.3:p.Asn294ValfsTer8 | |
| NM_005912.2:c.878_879dup | NP_005903.2:p.Asn294ValfsTer8 | |
| NM_005912.3:c.878_879dup MANE Select | NP_005903.2:p.Asn294ValfsTer8 |