Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404198C= , CM000666.2:g.73404198C= | GRCh38 |
| NC_000004.11:g.74269915C= , CM000666.1:g.74269915C= | GRCh37 |
| NC_000004.10:g.74488779C= | NCBI36 |
| NG_009291.1:g.4944C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441319.5:c.48-171C= | ENSP00000392541.1:n.48-171C= |