Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49457664A= , CM000668.2:g.49457664A= | GRCh38 |
| NC_000006.11:g.49425377A= , CM000668.1:g.49425377A= | GRCh37 |
| NC_000006.10:g.49533336A= | NCBI36 |
| NG_007100.1:g.10476T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.753+27T= MANE Select | ENSP00000274813.3:n.753+27T= | |
| ENST00000274813.3:c.753+27T= | ENSP00000274813.3:n.753+27T= | |
| NM_000255.3:c.753+27T= | NP_000246.2:n.753+27T= | |
| XM_005249143.2:c.753+27T= | XP_005249200.1:n.753+27T= | |
| XM_005249143.3:c.753+27T= | XP_005249200.1:n.753+27T= | |
| NM_000255.4:c.753+27T= MANE Select | NP_000246.2:n.753+27T= |