Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999789C>T , CM000679.2:g.15999789C>T | GRCh38 |
| NC_000017.10:g.15903103C>T , CM000679.1:g.15903103C>T | GRCh37 |
| NC_000017.9:g.15843828C>T | NCBI36 |
| NG_029806.1:g.5410C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.9:c.-60C>T | ENSP00000261647.5:n.-60C>T | |
| ENST00000466729.5:c.6C>T | ||
| NM_001271420.1:c.-518C>T | NP_001258349.1:n.-518C>T | |
| NM_017775.3:c.-60C>T | NP_060245.3:n.-60C>T | |
| XM_011523950.1:c.-60C>T | XP_011522252.1:n.-60C>T | |
| XM_017024801.2:c.-60C>T | XP_016880290.2:n.-60C>T | |
| XM_017024802.2:c.-60C>T | XP_016880291.2:n.-60C>T | |
| XM_024450814.1:c.-60C>T | XP_024306582.1:n.-60C>T |