Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48645764A>G , CM000677.2:g.48645764A>G | GRCh38 |
| NC_000015.9:g.48937961A>G , CM000677.1:g.48937961A>G | GRCh37 |
| NC_000015.8:g.46725253A>G | NCBI36 |
| NG_008805.2:g.5025T>C , LRG_778:g.5025T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.4:c.-371T>C , LRG_778t1:c.-371T>C | NP_000129.3:n.-371T>C |
| ENST00000316623.9:c.-371T>C | ENSP00000325527.5:n.-371T>C |