Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013266C>A , CM000685.2:g.25013266C>A | GRCh38 |
| NC_000023.10:g.25031383C>A , CM000685.1:g.25031383C>A | GRCh37 |
| NC_000023.9:g.24941304C>A | NCBI36 |
| NG_008281.1:g.7683G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.729G>T MANE Select | ENSP00000368332.4:p.Leu243= | |
| ENST00000379044.4:c.729G>T | ENSP00000368332.4:p.Leu243= | |
| NM_139058.2:c.729G>T | NP_620689.1:p.Leu243= | |
| NM_139058.3:c.729G>T MANE Select | NP_620689.1:p.Leu243= |