Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652476G>A , CM000663.2:g.171652476G>A | GRCh38 |
| NC_000001.10:g.171621616G>A , CM000663.1:g.171621616G>A | GRCh37 |
| NC_000001.9:g.169888239G>A | NCBI36 |
| NG_008859.1:g.5158C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000261.2:c.136C>T MANE Select | NP_000252.1:p.Arg46Ter |
| ENST00000037502.11:c.136C>T MANE Select | ENSP00000037502.5:p.Arg46Ter |
| NM_000261.1:c.136C>T | NP_000252.1:p.Arg46Ter |
| ENST00000037502.10:c.136C>T | ENSP00000037502.5:p.Arg46Ter |
| ENST00000614688.1:c.136C>T | ENSP00000478680.1:p.Arg46Ter |
| ENST00000638471.1:c.130+6C>T | ENSP00000491206.1:n.130+6C>T |