Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67583636C>T , CM000673.2:g.67583636C>T | GRCh38 |
| NC_000011.9:g.67351107C>T , CM000673.1:g.67351107C>T | GRCh37 |
| NC_000011.8:g.67107683C>T | NCBI36 |
| NG_012075.1:g.5042C>T , LRG_723:g.5042C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398606.7:c.-208C>T | ENSP00000381607.3:n.-208C>T | |
| NM_000852.3:c.-208C>T , LRG_723t1:c.-208C>T | NP_000843.1:n.-208C>T |