Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.21701254C>T , CM000675.2:g.21701254C>T | GRCh38 |
| NC_000013.10:g.22275393C>T , CM000675.1:g.22275393C>T | GRCh37 |
| NC_000013.9:g.21173393C>T | NCBI36 |
| NG_016272.1:g.35179C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002010.3:c.446C>T MANE Select | NP_002001.1:p.Ser149Leu |
| ENST00000382353.6:c.446C>T MANE Select | ENSP00000371790.5:p.Ser149Leu |
| NM_002010.2:c.446C>T | NP_002001.1:p.Ser149Leu |
| ENST00000382353.5:c.446C>T | ENSP00000371790.5:p.Ser149Leu |
| ENST00000461657.1:n.380C>T | |
| ENST00000478546.1:n.206C>T | |
| XM_011534996.1:c.296C>T | XP_011533298.1:p.Ser99Leu |
| XM_011534996.2:c.296C>T | XP_011533298.1:p.Ser99Leu |