Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53560634C>T , CM000667.2:g.53560634C>T | GRCh38 |
| NC_000005.9:g.52856464C>T , CM000667.1:g.52856464C>T | GRCh37 |
| NC_000005.8:g.52892221C>T | NCBI36 |
| NG_008200.1:g.5000C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507026.5:c.-29C>T | ENSP00000424993.1:n.-29C>T | |
| XM_005248525.3:c.-29C>T | XP_005248582.1:n.-29C>T | |
| XM_011543414.1:c.-29C>T | XP_011541716.1:n.-29C>T | |
| NM_001318051.1:c.-29C>T | NP_001304980.1:n.-29C>T | |
| NM_002495.3:c.-29C>T | NP_002486.1:n.-29C>T | |
| NR_134473.1:n.2C>T | ||
| NR_134474.1:n.2C>T | ||
| NR_134475.1:n.2C>T | ||
| XM_017009491.1:c.-29C>T | XP_016864980.1:n.-29C>T |