Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53084723C>T , CM000665.2:g.53084723C>T | GRCh38 |
| NC_000003.11:g.53118739C>T , CM000665.1:g.53118739C>T | GRCh37 |
| NC_000003.10:g.53093779C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000607203.1:c.176+1027G>A | |
| ENST00000607283.5:c.324-6895G>A | |
| ENST00000607495.5:c.74-6512G>A | |
| XM_006713384.3:c.*1126G>A | XP_006713447.1:n.*1126G>A |
| XM_011534214.1:c.1209-6895G>A | XP_011532516.1:n.1209-6895G>A |
| XM_011534214.2:c.1209-6895G>A | XP_011532516.1:n.1209-6895G>A |
| XM_011534215.1:c.1209-6895G>A | XP_011532517.1:n.1209-6895G>A |
| XM_011534215.3:c.1209-6895G>A | XP_011532517.1:n.1209-6895G>A |
| XM_017007460.1:c.1459-6895G>A | XP_016862949.1:n.1459-6895G>A |