Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028811G>T , CM000666.2:g.52028811G>T | GRCh38 |
| NC_000004.11:g.52894977G>T , CM000666.1:g.52894977G>T | GRCh37 |
| NC_000004.10:g.52589734G>T | NCBI36 |
| NG_008891.1:g.14509C>A , LRG_204:g.14509C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.540C>A MANE Select | NP_000223.1:p.Phe180Leu |
| ENST00000381431.10:c.540C>A MANE Select | ENSP00000370839.6:p.Phe180Leu |
| NM_000232.4:c.540C>A , LRG_204t1:c.540C>A | NP_000223.1:p.Phe180Leu |
| ENST00000381431.9:c.540C>A | ENSP00000370839.5:p.Phe180Leu |
| ENST00000506357.5:c.623C>A | |
| XM_006714049.2:c.243C>A | XP_006714112.1:p.Phe81Leu |
| XM_011534403.1:c.330C>A | XP_011532705.1:p.Phe110Leu |
| XM_011534404.1:c.243C>A | XP_011532706.1:p.Phe81Leu |