Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70176261C>G , CM000679.2:g.70176261C>G | GRCh38 |
| NC_000017.10:g.68172402C>G , CM000679.1:g.68172402C>G | GRCh37 |
| NC_000017.9:g.65683997C>G | NCBI36 |
| NG_008798.1:g.11727C>G , LRG_328:g.11727C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000891.3:c.1222C>G MANE Select | NP_000882.1:p.Leu408Val |
| ENST00000243457.4:c.1222C>G MANE Select | ENSP00000243457.2:p.Leu408Val |
| NM_000891.2:c.1222C>G , LRG_328t1:c.1222C>G | NP_000882.1:p.Leu408Val |
| ENST00000243457.3:c.1222C>G | ENSP00000243457.2:p.Leu408Val |
| ENST00000535240.1:c.1222C>G | ENSP00000441848.1:p.Leu408Val |
| XM_011524779.1:c.1222C>G | XP_011523081.1:p.Leu408Val |