Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61392390C>T , CM000673.2:g.61392390C>T | GRCh38 |
| NC_000011.9:g.61159862C>T , CM000673.1:g.61159862C>T | GRCh37 |
| NC_000011.8:g.60916438C>T | NCBI36 |
| NG_032976.1:g.5031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.9:c.-242C>T | ENSP00000334844.5:n.-242C>T | |
| ENST00000515837.6:c.-242C>T | ENSP00000440638.1:n.-242C>T | |
| NM_001173990.2:c.-242C>T | NP_001167461.1:n.-242C>T | |
| NM_001173991.2:c.-242C>T | NP_001167462.1:n.-242C>T | |
| XM_005274039.3:c.-573C>T | XP_005274096.1:n.-573C>T | |
| NM_001330285.1:c.-439C>T | NP_001317214.1:n.-439C>T | |
| XM_005274039.4:c.-573C>T | XP_005274096.1:n.-573C>T |