Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541090A>G , CM000663.2:g.169541090A>G | GRCh38 |
| NC_000001.10:g.169510328A>G , CM000663.1:g.169510328A>G | GRCh37 |
| NC_000001.9:g.167776952A>G | NCBI36 |
| NG_011806.1:g.50442T>C , LRG_553:g.50442T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.4000T>C MANE Select | NP_000121.2:p.Phe1334Leu |
| ENST00000367797.9:c.4000T>C MANE Select | ENSP00000356771.3:p.Phe1334Leu |
| NM_000130.4:c.4000T>C , LRG_553t1:c.4000T>C | NP_000121.2:p.Phe1334Leu |
| ENST00000367796.3:c.4015T>C | ENSP00000356770.3:p.Phe1339Leu |
| ENST00000367797.7:c.4000T>C | ENSP00000356771.3:p.Phe1334Leu |
| XM_017000660.2:c.3589T>C | XP_016856149.1:p.Phe1197Leu |