Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969360A>T , CM000685.2:g.154969360A>T | GRCh38 |
| NC_000023.10:g.154197635A>T , CM000685.1:g.154197635A>T | GRCh37 |
| NC_000023.9:g.153850829A>T | NCBI36 |
| NG_011403.1:g.58364T>A | |
| NG_011403.2:g.58364T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.980T>A MANE Select | NP_000123.1:p.Leu327Gln |
| ENST00000360256.9:c.980T>A MANE Select | ENSP00000353393.4:p.Leu327Gln |
| NM_000132.3:c.980T>A | NP_000123.1:p.Leu327Gln |
| ENST00000360256.8:c.980T>A | ENSP00000353393.4:p.Leu327Gln |
| ENST00000647125.1:c.*856T>A | ENSP00000496062.1:n.*856T>A |
| XM_011531126.1:c.875T>A | XP_011529428.1:p.Leu292Gln |