Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99352976C>A , CM000666.2:g.99352976C>A | GRCh38 |
| NC_000004.11:g.100274133C>A , CM000666.1:g.100274133C>A | GRCh37 |
| NC_000004.10:g.100493156C>A | NCBI36 |
| NG_011718.1:g.4785G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.5:c.-301G>T | ENSP00000426083.1:n.-301G>T | |
| NM_000669.4:c.-301G>T | NP_000660.1:n.-301G>T | |
| NR_133005.1:n.70G>T | ||
| XM_011531588.1:c.-301G>T | XP_011529890.1:n.-301G>T | |
| XM_011531589.1:c.-541G>T | XP_011529891.1:n.-541G>T |