Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53560637T>C , CM000667.2:g.53560637T>C | GRCh38 |
| NC_000005.9:g.52856467T>C , CM000667.1:g.52856467T>C | GRCh37 |
| NC_000005.8:g.52892224T>C | NCBI36 |
| NG_008200.1:g.5003T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.9:c.-26T>C | ENSP00000296684.5:n.-26T>C | |
| ENST00000502423.5:c.-26T>C | ENSP00000422177.1:n.-26T>C | |
| ENST00000507026.5:c.-26T>C | ENSP00000424993.1:n.-26T>C | |
| NM_002495.2:c.-26T>C | NP_002486.1:n.-26T>C | |
| XM_005248525.3:c.-26T>C | XP_005248582.1:n.-26T>C | |
| XM_011543414.1:c.-26T>C | XP_011541716.1:n.-26T>C | |
| NM_001318051.1:c.-26T>C | NP_001304980.1:n.-26T>C | |
| NM_002495.3:c.-26T>C | NP_002486.1:n.-26T>C | |
| NR_134473.1:n.5T>C | ||
| NR_134474.1:n.5T>C | ||
| NR_134475.1:n.5T>C | ||
| XM_017009491.1:c.-26T>C | XP_016864980.1:n.-26T>C |