Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123627087G>A , CM000674.2:g.123627087G>A | GRCh38 |
| NC_000012.11:g.124111634G>A , CM000674.1:g.124111634G>A | GRCh37 |
| NC_000012.10:g.122677587G>A | NCBI36 |
| NG_015862.1:g.11690C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001414.4:c.439C>T MANE Select | NP_001405.1:p.Arg147Ter |
| ENST00000424014.7:c.439C>T MANE Select | ENSP00000416250.2:p.Arg147Ter |
| NM_001414.3:c.439C>T | NP_001405.1:p.Arg147Ter |
| ENST00000424014.6:c.439C>T | ENSP00000416250.2:p.Arg147Ter |
| ENST00000534960.5:c.417-2225C>T | |
| ENST00000537073.1:c.439C>T | ENSP00000444183.1:p.Arg147Ter |
| ENST00000539951.5:c.400C>T | ENSP00000438060.1:p.Arg134Ter |