Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49442001T>A , CM000668.2:g.49442001T>A | GRCh38 |
| NC_000006.11:g.49409714T>A , CM000668.1:g.49409714T>A | GRCh37 |
| NC_000006.10:g.49517673T>A | NCBI36 |
| NG_007100.1:g.26139A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000255.4:c.1677-30A>T MANE Select | NP_000246.2:n.1677-30A>T |
| ENST00000274813.4:c.1677-30A>T MANE Select | ENSP00000274813.3:n.1677-30A>T |
| NM_000255.3:c.1677-30A>T | NP_000246.2:n.1677-30A>T |
| ENST00000274813.3:c.1677-30A>T | ENSP00000274813.3:n.1677-30A>T |
| XM_005249143.2:c.1677-30A>T | XP_005249200.1:n.1677-30A>T |
| XM_005249143.3:c.1677-30A>T | XP_005249200.1:n.1677-30A>T |