Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84872155T>C , CM000677.2:g.84872155T>C | GRCh38 |
| NC_000015.9:g.85415386T>C , CM000677.1:g.85415386T>C | GRCh37 |
| NC_000015.8:g.83216390T>C | NCBI36 |
| NG_054748.1:g.60525T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020778.5:c.*3699T>C MANE Select | NP_065829.4:n.*3699T>C |
| ENST00000258888.6:c.*3699T>C MANE Select | ENSP00000258888.6:n.*3699T>C |
| NM_020778.4:c.*3699T>C | NP_065829.3:n.*3699T>C |
| ENST00000258888.5:c.*3699T>C | ENSP00000258888.5:n.*3699T>C |