Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862594G= , CM000666.2:g.4862594G= | GRCh38 |
| NC_000004.11:g.4864321G= , CM000666.1:g.4864321G= | GRCh37 |
| NC_000004.10:g.4915222G= | NCBI36 |
| NG_008121.1:g.7930G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.470-107G= MANE Select | ENSP00000372170.4:n.470-107G= | |
| ENST00000382723.4:c.470-107G= | ENSP00000372170.4:n.470-107G= | |
| ENST00000468421.1:n.167G= | ||
| NM_002448.3:c.470-107G= MANE Select | NP_002439.2:n.470-107G= |