Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6511272G>A , CM000673.2:g.6511272G>A | GRCh38 |
| NC_000011.9:g.6532502G>A , CM000673.1:g.6532502G>A | GRCh37 |
| NC_000011.8:g.6489078G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144666.3:c.1236-1G>A MANE Select | NP_653267.2:n.1236-1G>A |
| ENST00000254579.11:c.1236-1G>A MANE Select | ENSP00000254579.6:n.1236-1G>A |
| NM_144666.2:c.1236-1G>A | NP_653267.2:n.1236-1G>A |
| NM_173589.3:c.1236-1G>A | NP_775860.3:n.1236-1G>A |
| NM_173589.4:c.1236-1G>A | NP_775860.3:n.1236-1G>A |
| ENST00000254579.10:c.1236-1G>A | ENSP00000254579.6:n.1236-1G>A |
| ENST00000354685.7:c.1236-1G>A | ENSP00000346716.3:n.1236-1G>A |
| ENST00000472080.1:n.983-1G>A | |
| ENST00000527990.6:c.1236-1G>A | ENSP00000436180.2:n.1236-1G>A |