Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96265250C>A , CM000664.2:g.96265250C>A | GRCh38 |
| NC_000002.11:g.96930988C>A , CM000664.1:g.96930988C>A | GRCh37 |
| NC_000002.10:g.96294715C>A | NCBI36 |
| NG_027695.1:g.5764G>T , LRG_528:g.5764G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.132G>T MANE Select | ENSP00000258439.3:p.Leu44= | |
| ENST00000258439.7:c.132G>T | ENSP00000258439.2:p.Leu44= | |
| ENST00000432959.1:c.132G>T | ENSP00000416660.1:p.Leu44= | |
| NM_001193304.2:c.132G>T | NP_001180233.1:p.Leu44= | |
| NM_017849.3:c.132G>T , LRG_528t1:c.132G>T | NP_060319.1:p.Leu44= | |
| NM_001193304.3:c.132G>T | NP_001180233.1:p.Leu44= | |
| NM_017849.4:c.132G>T MANE Select | NP_060319.1:p.Leu44= |