Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19533874T>C , CM000679.2:g.19533874T>C | GRCh38 |
| NC_000017.10:g.19437187T>C , CM000679.1:g.19437187T>C | GRCh37 |
| NC_000017.9:g.19377779T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018242.3:c.-66T>C MANE Select | NP_060712.2:n.-66T>C |
| ENST00000270570.8:c.-66T>C MANE Select | ENSP00000270570.4:n.-66T>C |
| NM_018242.2:c.-66T>C | NP_060712.2:n.-66T>C |
| ENST00000436810.6:c.-66T>C | ENSP00000407155.2:n.-66T>C |
| ENST00000571335.5:c.-311+303T>C | ENSP00000462630.1:n.-311+303T>C |
| ENST00000574596.1:n.15T>C | |
| ENST00000584348.5:n.98-8519T>C |