Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40846049T>A , CM000681.2:g.40846049T>A | GRCh38 |
| NC_000019.9:g.41351954T>A , CM000681.1:g.41351954T>A | GRCh37 |
| NC_000019.8:g.46043794T>A | NCBI36 |
| NG_008377.1:g.9399A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000762.6:c.880A>T MANE Select | NP_000753.3:p.Thr294Ser |
| ENST00000301141.10:c.880A>T MANE Select | ENSP00000301141.4:p.Thr294Ser |
| NM_000762.5:c.880A>T | NP_000753.3:p.Thr294Ser |
| ENST00000301141.9:c.880A>T | ENSP00000301141.4:p.Thr294Ser |
| ENST00000596719.5:n.731A>T | |
| ENST00000600495.1:c.*692A>T | ENSP00000472905.1:n.*692A>T |
| ENST00000601627.1:c.119+44634T>A | |
| ENST00000610301.1:c.880A>T | ENSP00000477899.1:p.Thr294Ser |