Linked Data
gnomAD v4:
19-18789216-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18789220dup , CM000681.2:g.18789220dup | GRCh38 |
| NC_000019.9:g.18900029dup , CM000681.1:g.18900029dup | GRCh37 |
| NC_000019.8:g.18761029dup | NCBI36 |
| NG_007070.1:g.7089dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.471dup MANE Select | ENSP00000222271.2:p.Tyr158ValfsTer28 | |
| ENST00000222271.6:c.471dup | ENSP00000222271.2:p.Tyr158ValfsTer28 | |
| ENST00000425807.1:c.391-325dup | ENSP00000403792.1:n.391-325dup | |
| ENST00000542601.6:c.372dup | ENSP00000439156.2:p.Tyr125ValfsTer28 | |
| NM_000095.2:c.471dup | NP_000086.2:p.Tyr158ValfsTer28 | |
| NM_000095.3:c.471dup MANE Select | NP_000086.2:p.Tyr158ValfsTer28 |