Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4631520G>A , CM000679.2:g.4631520G>A | GRCh38 |
| NC_000017.10:g.4534815G>A , CM000679.1:g.4534815G>A | GRCh37 |
| NC_000017.9:g.4481564G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.*80C>T MANE Select | ENSP00000293761.3:n.*80C>T | |
| ENST00000570836.6:c.*80C>T | ENSP00000458832.1:n.*80C>T | |
| ENST00000293761.7:c.*80C>T | ENSP00000293761.3:n.*80C>T | |
| ENST00000570836.5:c.*80C>T | ENSP00000458832.1:n.*80C>T | |
| ENST00000574640.1:c.*80C>T | ENSP00000460483.1:n.*80C>T | |
| NM_001140.3:c.*80C>T | NP_001131.3:n.*80C>T | |
| NM_001140.4:c.*80C>T | NP_001131.3:n.*80C>T | |
| NM_001140.5:c.*80C>T MANE Select | NP_001131.3:n.*80C>T |