Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652172C>A , CM000663.2:g.171652172C>A | GRCh38 |
| NC_000001.10:g.171621312C>A , CM000663.1:g.171621312C>A | GRCh37 |
| NC_000001.9:g.169887935C>A | NCBI36 |
| NG_008859.1:g.5462G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.440G>T MANE Select | ENSP00000037502.5:p.Arg147Leu | |
| ENST00000638471.1:c.130+310G>T | ENSP00000491206.1:n.130+310G>T | |
| ENST00000037502.10:c.440G>T | ENSP00000037502.5:p.Arg147Leu | |
| ENST00000614688.1:c.440G>T | ENSP00000478680.1:p.Arg147Leu | |
| NM_000261.1:c.440G>T | NP_000252.1:p.Arg147Leu | |
| NM_000261.2:c.440G>T MANE Select | NP_000252.1:p.Arg147Leu |