Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215013629G>T , CM000663.2:g.215013629G>T | GRCh38 |
| NC_000001.10:g.215186972G>T , CM000663.1:g.215186972G>T | GRCh37 |
| NC_000001.9:g.213253595G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391895.6:c.34+7674G>T | ENSP00000375765.2:n.34+7674G>T | |
| ENST00000467031.5:c.34+7674G>T | ENSP00000420203.1:n.34+7674G>T | |
| ENST00000486921.5:c.34+7674G>T | ENSP00000418706.1:n.34+7674G>T | |
| NM_001017424.2:c.34+7674G>T | NP_001017424.1:n.34+7674G>T | |
| XM_011509521.1:c.-85+7674G>T | XP_011507823.1:n.-85+7674G>T | |
| XM_017001248.1:c.34+7674G>T | XP_016856737.1:n.34+7674G>T | |
| XM_017001249.1:c.-85+7674G>T | XP_016856738.1:n.-85+7674G>T | |
| NM_001017424.3:c.34+7674G>T | NP_001017424.1:n.34+7674G>T |