Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16952570C>T , CM000679.2:g.16952570C>T | GRCh38 |
| NC_000017.10:g.16855884C>T , CM000679.1:g.16855884C>T | GRCh37 |
| NC_000017.9:g.16796609C>T | NCBI36 |
| NG_007281.1:g.24519G>A , LRG_120:g.24519G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012452.3:c.75G>A MANE Select | NP_036584.1:p.Leu25= |
| ENST00000261652.7:c.75G>A MANE Select | ENSP00000261652.2:p.Leu25= |
| NM_012452.2:c.75G>A , LRG_120t1:c.75G>A | NP_036584.1:p.Leu25= |
| ENST00000261652.6:c.75G>A | ENSP00000261652.2:p.Leu25= |
| ENST00000579315.5:c.75G>A | ENSP00000464069.1:p.Leu25= |
| ENST00000581616.2:n.78G>A | |
| ENST00000582931.5:n.104-3587G>A | |
| ENST00000583789.1:c.62-3587G>A | ENSP00000462952.1:n.62-3587G>A |
| ENST00000584950.5:c.62-3587G>A | ENSP00000463582.1:n.62-3587G>A |