Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96276991G>A , CM000664.2:g.96276991G>A | GRCh38 |
| NC_000002.11:g.96942729G>A , CM000664.1:g.96942729G>A | GRCh37 |
| NC_000002.10:g.96306456G>A | NCBI36 |
| NG_016973.1:g.33569C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014014.5:c.6093-6C>T MANE Select | NP_054733.2:n.6093-6C>T |
| ENST00000323853.10:c.6093-6C>T MANE Select | ENSP00000317123.5:n.6093-6C>T |
| NM_014014.4:c.6093-6C>T | NP_054733.2:n.6093-6C>T |
| ENST00000323853.9:c.6093-6C>T | ENSP00000317123.5:n.6093-6C>T |
| ENST00000429650.1:c.1674-6C>T | ENSP00000387870.1:n.1674-6C>T |
| ENST00000497539.5:n.2067-6C>T |