Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169543053G>C , CM000663.2:g.169543053G>C | GRCh38 |
| NC_000001.10:g.169512291G>C , CM000663.1:g.169512291G>C | GRCh37 |
| NC_000001.9:g.167778915G>C | NCBI36 |
| NG_011806.1:g.48479C>G , LRG_553:g.48479C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.2037C>G MANE Select | NP_000121.2:p.Phe679Leu |
| ENST00000367797.9:c.2037C>G MANE Select | ENSP00000356771.3:p.Phe679Leu |
| NM_000130.4:c.2037C>G , LRG_553t1:c.2037C>G | NP_000121.2:p.Phe679Leu |
| ENST00000367796.3:c.2052C>G | ENSP00000356770.3:p.Phe684Leu |
| ENST00000367797.7:c.2037C>G | ENSP00000356771.3:p.Phe679Leu |
| XM_017000660.2:c.1626C>G | XP_016856149.1:p.Phe542Leu |