Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999801G>T , CM000679.2:g.15999801G>T | GRCh38 |
| NC_000017.10:g.15903115G>T , CM000679.1:g.15903115G>T | GRCh37 |
| NC_000017.9:g.15843840G>T | NCBI36 |
| NG_029806.1:g.5422G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.9:c.-48G>T | ENSP00000261647.5:n.-48G>T | |
| ENST00000466729.5:c.18G>T | ||
| NM_001271420.1:c.-506G>T | NP_001258349.1:n.-506G>T | |
| NM_017775.3:c.-48G>T | NP_060245.3:n.-48G>T | |
| XM_011523950.1:c.-48G>T | XP_011522252.1:n.-48G>T | |
| XM_017024801.2:c.-48G>T | XP_016880290.2:n.-48G>T | |
| XM_017024802.2:c.-48G>T | XP_016880291.2:n.-48G>T | |
| XM_024450814.1:c.-48G>T | XP_024306582.1:n.-48G>T |