Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40845378G>T , CM000681.2:g.40845378G>T | GRCh38 |
| NC_000019.9:g.41351283G>T , CM000681.1:g.41351283G>T | GRCh37 |
| NC_000019.8:g.46043123G>T | NCBI36 |
| NG_008377.1:g.10070C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.1077C>A MANE Select | ENSP00000301141.4:p.Ile359= | |
| ENST00000301141.9:c.1077C>A | ENSP00000301141.4:p.Ile359= | |
| ENST00000596719.5:n.928C>A | ||
| ENST00000601627.1:c.119+43963G>T | ||
| ENST00000610301.1:c.1077C>A | ENSP00000477899.1:p.Ile359= | |
| NM_000762.5:c.1077C>A | NP_000753.3:p.Ile359= | |
| NM_000762.6:c.1077C>A MANE Select | NP_000753.3:p.Ile359= |