Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420542A>T , CM000666.2:g.99420542A>T | GRCh38 |
| NC_000004.11:g.100341699A>T , CM000666.1:g.100341699A>T | GRCh37 |
| NC_000004.10:g.100560722A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.816T>A MANE Select | ENSP00000414254.2:p.Leu272= | |
| ENST00000209665.8:c.852T>A | ENSP00000209665.4:p.Leu284= | |
| ENST00000437033.6:c.816T>A | ENSP00000414254.2:p.Leu272= | |
| ENST00000476959.5:c.876T>A | ENSP00000420269.1:p.Leu292= | |
| ENST00000482593.5:c.645T>A | ENSP00000420613.1:p.Leu215= | |
| NM_000673.4:c.852T>A | NP_000664.2:p.Leu284= | |
| NM_001166504.1:c.876T>A | NP_001159976.1:p.Leu292= | |
| NM_000673.7:c.816T>A MANE Select | NP_000664.3:p.Leu272= | |
| NM_001166504.2:c.876T>A | NP_001159976.1:p.Leu292= |