Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43022697C>T , CM000677.2:g.43022697C>T | GRCh38 |
| NC_000015.9:g.43314895C>T , CM000677.1:g.43314895C>T | GRCh37 |
| NC_000015.8:g.41102187C>T | NCBI36 |
| NG_012182.1:g.88392G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174916.3:c.2839+5G>A MANE Select | NP_777576.1:n.2839+5G>A |
| ENST00000290650.9:c.2839+5G>A MANE Select | ENSP00000290650.4:n.2839+5G>A |
| NM_174916.2:c.2839+5G>A | NP_777576.1:n.2839+5G>A |
| ENST00000290650.8:c.2839+5G>A | ENSP00000290650.4:n.2839+5G>A |
| ENST00000546274.6:c.2839+5G>A | ENSP00000477932.1:n.2839+5G>A |
| ENST00000564540.5:c.444+5G>A | |
| ENST00000569066.2:c.1959+5G>A | ENSP00000456327.1:n.1959+5G>A |
| ENST00000569243.5:c.407+5G>A |