Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169529782G>C , CM000663.2:g.169529782G>C | GRCh38 |
| NC_000001.10:g.169499020G>C , CM000663.1:g.169499020G>C | GRCh37 |
| NC_000001.9:g.167765644G>C | NCBI36 |
| NG_011806.1:g.61750C>G , LRG_553:g.61750C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.5245C>G MANE Select | NP_000121.2:p.Leu1749Val |
| ENST00000367797.9:c.5245C>G MANE Select | ENSP00000356771.3:p.Leu1749Val |
| NM_000130.4:c.5245C>G , LRG_553t1:c.5245C>G | NP_000121.2:p.Leu1749Val |
| ENST00000367796.3:c.5260C>G | ENSP00000356770.3:p.Leu1754Val |
| ENST00000367797.7:c.5245C>G | ENSP00000356771.3:p.Leu1749Val |
| XM_017000660.2:c.4834C>G | XP_016856149.1:p.Leu1612Val |