Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40845115T>A , CM000681.2:g.40845115T>A | GRCh38 |
| NC_000019.9:g.41351020T>A , CM000681.1:g.41351020T>A | GRCh37 |
| NC_000019.8:g.46042860T>A | NCBI36 |
| NG_008377.1:g.10333A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.1161+179A>T MANE Select | ENSP00000301141.4:n.1161+179A>T | |
| ENST00000301141.9:c.1161+179A>T | ENSP00000301141.4:n.1161+179A>T | |
| ENST00000596719.5:n.1191A>T | ||
| ENST00000601627.1:c.119+43700T>A | ||
| ENST00000610301.1:c.1161+179A>T | ENSP00000477899.1:n.1161+179A>T | |
| NM_000762.5:c.1161+179A>T | NP_000753.3:n.1161+179A>T | |
| NM_000762.6:c.1161+179A>T MANE Select | NP_000753.3:n.1161+179A>T |