Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1823731G>A , CM000666.2:g.1823731G>A | GRCh38 |
| NC_000004.11:g.1825458G>A , CM000666.1:g.1825458G>A | GRCh37 |
| NC_000004.10:g.1795256G>A | NCBI36 |
| NG_013063.1:g.37517C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012318.3:c.1245C>T MANE Select | NP_036450.1:p.Leu415= |
| ENST00000302787.3:c.1245C>T MANE Select | ENSP00000305653.2:p.Leu415= |
| NM_012318.2:c.1245C>T | NP_036450.1:p.Leu415= |
| ENST00000302787.2:c.1245C>T | ENSP00000305653.2:p.Leu415= |
| ENST00000511977.1:n.301C>T | |
| XM_005247970.3:c.330C>T | XP_005248027.1:p.Leu110= |
| XM_006713884.1:c.1245C>T | XP_006713947.1:p.Leu415= |