Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76371446C>T , CM000676.2:g.76371446C>T | GRCh38 |
| NC_000014.8:g.76837789C>T , CM000676.1:g.76837789C>T | GRCh37 |
| NC_000014.7:g.75907542C>T | NCBI36 |
| NG_012278.1:g.5100C>T | |
| NG_012278.2:g.5100C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380887.7:c.-272C>T | ENSP00000370270.2:n.-272C>T | |
| ENST00000505752.6:c.-272C>T | ENSP00000423004.1:n.-272C>T | |
| ENST00000512784.6:c.2+60530C>T | ENSP00000424992.2:n.2+60530C>T | |
| ENST00000505752.5:c.-272C>T | ENSP00000423004.1:n.-272C>T | |
| ENST00000512784.5:c.2+60530C>T | ENSP00000424992.1:n.2+60530C>T | |
| NM_004452.3:c.-272C>T | NP_004443.3:n.-272C>T | |
| XM_011536548.1:c.-272C>T | XP_011534850.1:n.-272C>T | |
| NM_004452.4:c.-272C>T | NP_004443.3:n.-272C>T |