Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43360372G>C , CM000681.2:g.43360372G>C | GRCh38 |
| NC_000019.9:g.43864524G>C , CM000681.1:g.43864524G>C | GRCh37 |
| NC_000019.8:g.48556364G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020406.4:c.727G>C MANE Select | NP_065139.2:p.Val243Leu |
| ENST00000618265.5:c.727G>C MANE Select | ENSP00000479536.1:p.Val243Leu |
| NM_020406.3:c.727G>C | NP_065139.2:p.Val243Leu |
| ENST00000378012.3:c.873G>C | ENSP00000367251.2:n.873G>C |
| ENST00000618265.4:c.727G>C | ENSP00000479536.1:p.Val243Leu |
| XM_017027021.2:c.727G>C | XP_016882510.1:p.Val243Leu |
| XM_017027022.2:c.727G>C | XP_016882511.1:p.Val243Leu |