Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117694054A>T , CM000668.2:g.117694054A>T | GRCh38 |
| NC_000006.11:g.118015217A>T , CM000668.1:g.118015217A>T | GRCh37 |
| NC_000006.10:g.118121910A>T | NCBI36 |
| NG_054913.1:g.23601A>T | |
| NG_054913.2:g.23601A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138459.5:c.565A>T MANE Select | NP_612468.1:p.Lys189Ter |
| ENST00000368494.4:c.565A>T MANE Select | ENSP00000357480.3:p.Lys189Ter |
| NM_138459.3:c.565A>T | NP_612468.1:p.Lys189Ter |
| NM_138459.4:c.565A>T | NP_612468.1:p.Lys189Ter |
| ENST00000368494.3:c.565A>T | ENSP00000357480.3:p.Lys189Ter |