Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130380535G>A , CM000669.2:g.130380535G>A | GRCh38 |
| NC_000007.13:g.130020376G>A , CM000669.1:g.130020376G>A | GRCh37 |
| NC_000007.12:g.129807612G>A | NCBI36 |
| NG_042276.1:g.5165G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.15G>A MANE Select | NP_001859.1:p.Leu5= |
| ENST00000011292.8:c.15G>A MANE Select | ENSP00000011292.3:p.Leu5= |
| NM_001868.3:c.15G>A | NP_001859.1:p.Leu5= |
| ENST00000011292.7:c.15G>A | ENSP00000011292.3:p.Leu5= |
| ENST00000481342.5:c.-200+126G>A | ENSP00000420218.1:n.-200+126G>A |
| ENST00000491460.5:n.42G>A | |
| ENST00000604896.5:c.42G>A | ENSP00000475021.1:p.Leu14= |