Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133642435A>T , CM000671.2:g.133642435A>T | GRCh38 |
| NC_000009.11:g.136507557A>T , CM000671.1:g.136507557A>T | GRCh37 |
| NC_000009.10:g.135497378A>T | NCBI36 |
| NG_008645.1:g.11073A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.715A>T MANE Select | NP_000778.3:p.Lys239Ter |
| ENST00000393056.8:c.715A>T MANE Select | ENSP00000376776.2:p.Lys239Ter |
| NM_000787.3:c.715A>T | NP_000778.3:p.Lys239Ter |
| ENST00000263611.2:c.526A>T | ENSP00000263611.2:p.Lys176Ter |
| ENST00000263611.3:c.562A>T | ENSP00000263611.3:p.Lys188Ter |
| ENST00000393056.6:c.715A>T | ENSP00000376776.2:p.Lys239Ter |