Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100239779A>T , CM000676.2:g.100239779A>T | GRCh38 |
| NC_000014.8:g.100706116A>T , CM000676.1:g.100706116A>T | GRCh37 |
| NC_000014.7:g.99775869A>T | NCBI36 |
| NG_046908.1:g.6015A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003403.5:c.535A>T MANE Select | NP_003394.1:p.Lys179Ter |
| ENST00000262238.10:c.535A>T MANE Select | ENSP00000262238.4:p.Lys179Ter |
| NM_003403.4:c.535A>T | NP_003394.1:p.Lys179Ter |
| ENST00000262238.8:c.535A>T | ENSP00000262238.4:p.Lys179Ter |
| ENST00000553625.5:c.26A>T | |
| ENST00000554804.1:c.21A>T |