Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20454903C>T , CM000676.2:g.20454903C>T | GRCh38 |
| NC_000014.8:g.20923062C>T , CM000676.1:g.20923062C>T | GRCh37 |
| NC_000014.7:g.19992902C>T | NCBI36 |
| NG_008718.1:g.4773C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.8:c.-220G>A | ENSP00000206542.4:n.-220G>A | |
| ENST00000556252.1:n.151G>A | ||
| ENST00000556439.1:n.187G>A | ||
| NM_017807.3:c.-220G>A | NP_060277.1:n.-220G>A | |
| XM_011536930.1:c.-281G>A | XP_011535232.1:n.-281G>A |