Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1397402dup , CM000681.2:g.1397402dup | GRCh38 |
| NC_000019.9:g.1397401dup , CM000681.1:g.1397401dup | GRCh37 |
| NC_000019.8:g.1348401dup | NCBI36 |
| NG_008283.1:g.18519dup | |
| NG_009785.1:g.9152dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000156.6:c.668dup MANE Select | NP_000147.1:p.Tyr223Ter |
| ENST00000252288.8:c.668dup MANE Select | ENSP00000252288.1:p.Tyr223Ter |
| NM_000156.5:c.668dup | NP_000147.1:p.Tyr223Ter |
| ENST00000252288.6:c.668dup | ENSP00000252288.1:p.Tyr223Ter |
| ENST00000640164.1:n.501dup | |
| ENST00000640762.1:c.599dup | ENSP00000492031.1:p.Tyr200Ter |