Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045761C>T , CM000675.2:g.48045761C>T | GRCh38 |
| NC_000013.10:g.48619897C>T , CM000675.1:g.48619897C>T | GRCh37 |
| NC_000013.9:g.47517898C>T | NCBI36 |
| NG_047021.1:g.13195C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.457C>T MANE Select | ENSP00000258662.1:p.Leu153= | |
| ENST00000258662.2:c.457C>T | ENSP00000258662.1:p.Leu153= | |
| NM_018283.2:c.457C>T | NP_060753.1:p.Leu153= | |
| NM_018283.3:c.457C>T | NP_060753.1:p.Leu153= | |
| NR_136687.1:n.637C>T | ||
| NR_136688.1:n.637C>T | ||
| NM_018283.4:c.457C>T MANE Select | NP_060753.1:p.Leu153= | |
| NR_136687.2:n.478C>T | ||
| NR_136688.2:n.478C>T |