Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76732598G>C , CM000667.2:g.76732598G>C | GRCh38 |
| NC_000005.9:g.76028423G>C , CM000667.1:g.76028423G>C | GRCh37 |
| NC_000005.8:g.76064179G>C | NCBI36 |
| NG_032906.1:g.21556G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001992.5:c.373G>C MANE Select | NP_001983.2:p.Val125Leu |
| ENST00000319211.5:c.373G>C MANE Select | ENSP00000321326.4:p.Val125Leu |
| NM_001311313.1:c.10G>C | NP_001298242.1:p.Val4Leu |
| NM_001311313.2:c.10G>C | NP_001298242.1:p.Val4Leu |
| NM_001992.3:c.373G>C | NP_001983.2:p.Val125Leu |
| NM_001992.4:c.373G>C | NP_001983.2:p.Val125Leu |
| ENST00000319211.4:c.373G>C | ENSP00000321326.4:p.Val125Leu |