Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100390997C>A , CM000674.2:g.100390997C>A | GRCh38 |
| NC_000012.11:g.100784775C>A , CM000674.1:g.100784775C>A | GRCh37 |
| NC_000012.10:g.99308906C>A | NCBI36 |
| NG_021175.1:g.38919C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139319.3:c.355-4C>A MANE Select | NP_647480.1:n.355-4C>A |
| ENST00000323346.10:c.355-4C>A MANE Select | ENSP00000316909.4:n.355-4C>A |
| NM_001145288.1:c.355-4C>A | NP_001138760.1:n.355-4C>A |
| NM_001145288.2:c.355-4C>A | NP_001138760.1:n.355-4C>A |
| NM_139319.2:c.355-4C>A | NP_647480.1:n.355-4C>A |
| ENST00000323346.9:c.355-4C>A | ENSP00000316909.4:n.355-4C>A |
| ENST00000392989.3:c.355-4C>A | ENSP00000376715.3:n.355-4C>A |