Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119452496C>T , CM000667.2:g.119452496C>T | GRCh38 |
| NC_000005.9:g.118788191C>T , CM000667.1:g.118788191C>T | GRCh37 |
| NC_000005.8:g.118816090C>T | NCBI36 |
| NG_008182.1:g.5044C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.-80C>T | ENSP00000426272.2:n.-80C>T | |
| ENST00000682996.1:c.-80C>T | ENSP00000507792.1:n.-80C>T | |
| ENST00000683936.1:c.-80C>T | ENSP00000507721.1:n.-80C>T | |
| ENST00000683974.1:n.3C>T | ||
| ENST00000684214.1:c.-80C>T | ENSP00000508071.1:n.-80C>T | |
| ENST00000256216.10:c.-80C>T | ENSP00000256216.6:n.-80C>T | |
| ENST00000511186.5:n.24C>T | ||
| NM_000414.3:c.-80C>T | NP_000405.1:n.-80C>T | |
| NM_001199292.1:c.-80C>T | NP_001186221.1:n.-80C>T | |
| NM_001292027.1:c.-217C>T | NP_001278956.1:n.-217C>T |