Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89917952A>C , CM000678.2:g.89917952A>C | GRCh38 |
| NC_000016.9:g.89984360A>C , CM000678.1:g.89984360A>C | GRCh37 |
| NC_000016.8:g.88511861A>C | NCBI36 |
| NG_012026.1:g.5074A>C | |
| NG_027810.1:g.944A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639847.1:c.-504A>C | ENSP00000492011.1:n.-504A>C | |
| ENST00000555147.1:c.-1307A>C | ENSP00000451605.1:n.-1307A>C | |
| ENST00000555427.1:c.-504A>C | ENSP00000451760.1:n.-504A>C | |
| NM_002386.3:c.-1307A>C | NP_002377.4:n.-1307A>C |