Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84863645G>C , CM000677.2:g.84863645G>C | GRCh38 |
| NC_000015.9:g.85406876G>C , CM000677.1:g.85406876G>C | GRCh37 |
| NC_000015.8:g.83207880G>C | NCBI36 |
| NG_054748.1:g.52015G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.4499+5G>C MANE Select | ENSP00000258888.6:n.4499+5G>C | |
| ENST00000258888.5:c.5105+5G>C | ENSP00000258888.5:n.5105+5G>C | |
| ENST00000558077.1:n.112+5G>C | ||
| NM_020778.4:c.5105+5G>C | NP_065829.3:n.5105+5G>C | |
| NM_020778.5:c.4499+5G>C MANE Select | NP_065829.4:n.4499+5G>C |