Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42359229G>A , CM000681.2:g.42359229G>A | GRCh38 |
| NC_000019.9:g.42863381G>A , CM000681.1:g.42863381G>A | GRCh37 |
| NC_000019.8:g.47555221G>A | NCBI36 |
| NG_033030.1:g.38621G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001271938.2:c.5475G>A MANE Select | NP_001258867.1:p.Leu1825= |
| ENST00000251268.11:c.5475G>A MANE Select | ENSP00000251268.5:p.Leu1825= |
| NM_001271938.1:c.5475G>A | NP_001258867.1:p.Leu1825= |
| NM_001410.2:c.5274G>A | NP_001401.2:p.Leu1758= |
| NM_001410.3:c.5274G>A | NP_001401.2:p.Leu1758= |
| ENST00000251268.10:c.5475G>A | ENSP00000251268.5:p.Leu1825= |
| ENST00000334370.8:c.5274G>A | ENSP00000334219.4:p.Leu1758= |
| ENST00000378073.5:c.-1611G>A | ENSP00000367313.4:n.-1611G>A |