Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404240A= , CM000666.2:g.73404240A= | GRCh38 |
| NC_000004.11:g.74269957A= , CM000666.1:g.74269957A= | GRCh37 |
| NC_000004.10:g.74488821A= | NCBI36 |
| NG_009291.1:g.4986A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000477.6:c.-88A= | NP_000468.1:n.-88A= |
| ENST00000295897.8:c.-88A= | ENSP00000295897.4:n.-88A= |
| ENST00000441319.5:c.48-129A= | ENSP00000392541.1:n.48-129A= |