Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045796C>G , CM000675.2:g.48045796C>G | GRCh38 |
| NC_000013.10:g.48619932C>G , CM000675.1:g.48619932C>G | GRCh37 |
| NC_000013.9:g.47517933C>G | NCBI36 |
| NG_047021.1:g.13230C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.492C>G MANE Select | ENSP00000258662.1:p.Leu164= | |
| ENST00000258662.2:c.492C>G | ENSP00000258662.1:p.Leu164= | |
| NM_018283.2:c.492C>G | NP_060753.1:p.Leu164= | |
| NM_018283.3:c.492C>G | NP_060753.1:p.Leu164= | |
| NR_136687.1:n.672C>G | ||
| NR_136688.1:n.672C>G | ||
| NM_018283.4:c.492C>G MANE Select | NP_060753.1:p.Leu164= | |
| NR_136687.2:n.513C>G | ||
| NR_136688.2:n.513C>G |