Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10691948C>A , CM000679.2:g.10691948C>A | GRCh38 |
| NC_000017.10:g.10595265C>A , CM000679.1:g.10595265C>A | GRCh37 |
| NC_000017.9:g.10535990C>A | NCBI36 |
| NG_008228.2:g.10621G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004589.4:c.579G>T MANE Select | NP_004580.1:p.Leu193= |
| ENST00000255390.10:c.579G>T MANE Select | ENSP00000255390.5:p.Leu193= |
| NM_004589.3:c.579G>T | NP_004580.1:p.Leu193= |
| ENST00000255390.9:c.579G>T | ENSP00000255390.5:p.Leu193= |
| ENST00000577335.2:c.*341G>T | ENSP00000464032.1:n.*341G>T |
| ENST00000577427.1:c.486G>T | ENSP00000463387.1:p.Leu162= |
| XM_005256751.2:c.246G>T | XP_005256808.1:p.Leu82= |
| XM_005256751.4:c.246G>T | XP_005256808.1:p.Leu82= |