Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028813A>G , CM000666.2:g.52028813A>G | GRCh38 |
| NC_000004.11:g.52894979A>G , CM000666.1:g.52894979A>G | GRCh37 |
| NC_000004.10:g.52589736A>G | NCBI36 |
| NG_008891.1:g.14507T>C , LRG_204:g.14507T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.538T>C MANE Select | NP_000223.1:p.Phe180Leu |
| ENST00000381431.10:c.538T>C MANE Select | ENSP00000370839.6:p.Phe180Leu |
| NM_000232.4:c.538T>C , LRG_204t1:c.538T>C | NP_000223.1:p.Phe180Leu |
| ENST00000381431.9:c.538T>C | ENSP00000370839.5:p.Phe180Leu |
| ENST00000506357.5:c.621T>C | |
| XM_006714049.2:c.241T>C | XP_006714112.1:p.Phe81Leu |
| XM_011534403.1:c.328T>C | XP_011532705.1:p.Phe110Leu |
| XM_011534404.1:c.241T>C | XP_011532706.1:p.Phe81Leu |