Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30606577C>T , CM000665.2:g.30606577C>T | GRCh38 |
| NC_000003.11:g.30648069C>T , CM000665.1:g.30648069C>T | GRCh37 |
| NC_000003.10:g.30623073C>T | NCBI36 |
| NG_007490.1:g.5076C>T , LRG_779:g.5076C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001024847.2:c.-307C>T , LRG_779t1:c.-307C>T | NP_001020018.1:n.-307C>T |
| NM_003242.5:c.-307C>T | NP_003233.4:n.-307C>T |
| ENST00000295754.9:c.-307C>T | ENSP00000295754.5:n.-307C>T |
| XM_011534045.1:c.-28C>T | XP_011532347.1:n.-28C>T |
| XM_011534045.3:c.-28C>T | XP_011532347.1:n.-28C>T |