Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70169690C>T , CM000679.2:g.70169690C>T | GRCh38 |
| NC_000017.10:g.68165831C>T , CM000679.1:g.68165831C>T | GRCh37 |
| NC_000017.9:g.65677426C>T | NCBI36 |
| NG_008798.1:g.5156C>T , LRG_328:g.5156C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000891.3:c.-228C>T MANE Select | NP_000882.1:n.-228C>T |
| ENST00000243457.4:c.-228C>T MANE Select | ENSP00000243457.2:n.-228C>T |
| NM_000891.2:c.-228C>T , LRG_328t1:c.-228C>T | NP_000882.1:n.-228C>T |
| ENST00000243457.3:c.-228C>T | ENSP00000243457.2:n.-228C>T |
| ENST00000535240.1:c.-217+833C>T | ENSP00000441848.1:n.-217+833C>T |
| XM_011524779.1:c.-217+833C>T | XP_011523081.1:n.-217+833C>T |