Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.119339341C= , CM000671.2:g.119339341C= | GRCh38 |
| NC_000009.11:g.122101619C= , CM000671.1:g.122101619C= | GRCh37 |
| NC_000009.10:g.121141440C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014618.3:c.-50-25936G= MANE Select | NP_055433.2:n.-50-25936G= |
| ENST00000265922.8:c.-50-25936G= MANE Select | ENSP00000265922.2:n.-50-25936G= |
| NM_014618.2:c.-50-25936G= | NP_055433.2:n.-50-25936G= |
| ENST00000265922.7:c.-50-25936G= | ENSP00000265922.2:n.-50-25936G= |
| ENST00000373964.2:c.-50-25936G= | ENSP00000363075.1:n.-50-25936G= |