Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72240199C>T , CM000673.2:g.72240199C>T | GRCh38 |
| NC_000011.9:g.71951243C>T , CM000673.1:g.71951243C>T | GRCh37 |
| NC_000011.8:g.71628891C>T | NCBI36 |
| NG_008169.1:g.8978G>A | |
| NG_023253.1:g.20362C>T | |
| NG_023253.2:g.20362C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005169.4:c.406-1G>A MANE Select | NP_005160.2:n.406-1G>A |
| ENST00000298231.5:c.406-1G>A MANE Select | ENSP00000298231.5:n.406-1G>A |
| NM_005169.3:c.406-1G>A | NP_005160.2:n.406-1G>A |
| ENST00000544057.1:n.274-1G>A | |
| ENST00000546310.1:c.86-280G>A |