Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30606513A>C , CM000665.2:g.30606513A>C | GRCh38 |
| NC_000003.11:g.30648005A>C , CM000665.1:g.30648005A>C | GRCh37 |
| NC_000003.10:g.30623009A>C | NCBI36 |
| NG_007490.1:g.5012A>C , LRG_779:g.5012A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001024847.2:c.-371A>C , LRG_779t1:c.-371A>C | NP_001020018.1:n.-371A>C |
| NM_003242.5:c.-371A>C | NP_003233.4:n.-371A>C |
| ENST00000295754.9:c.-371A>C | ENSP00000295754.5:n.-371A>C |
| XM_011534045.1:c.-92A>C | XP_011532347.1:n.-92A>C |
| XM_011534045.3:c.-92A>C | XP_011532347.1:n.-92A>C |