Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31923801A= , CM000683.2:g.31923801A= | GRCh38 |
| NC_000021.8:g.33296113A= , CM000683.1:g.33296113A= | GRCh37 |
| NC_000021.7:g.32217984A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014586.2:c.262-667A= MANE Select | NP_055401.1:n.262-667A= |
| ENST00000270112.7:c.262-667A= MANE Select | ENSP00000270112.2:n.262-667A= |
| NM_014586.1:c.262-667A= | NP_055401.1:n.262-667A= |
| ENST00000270112.6:c.262-667A= | ENSP00000270112.2:n.262-667A= |
| XM_011529537.1:c.262-667A= | XP_011527839.1:n.262-667A= |
| XM_011529537.2:c.262-667A= | XP_011527839.1:n.262-667A= |