Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49431731T>A , CM000668.2:g.49431731T>A | GRCh38 |
| NC_000006.11:g.49399444T>A , CM000668.1:g.49399444T>A | GRCh37 |
| NC_000006.10:g.49507403T>A | NCBI36 |
| NG_007100.1:g.36409A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000255.4:c.2250A>T MANE Select | NP_000246.2:p.Val750= |
| ENST00000274813.4:c.2250A>T MANE Select | ENSP00000274813.3:p.Val750= |
| NM_000255.3:c.2250A>T | NP_000246.2:p.Val750= |
| ENST00000274813.3:c.2250A>T | ENSP00000274813.3:p.Val750= |
| XM_005249143.2:c.2250A>T | XP_005249200.1:p.Val750= |
| XM_005249143.3:c.2250A>T | XP_005249200.1:p.Val750= |