Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110642066G>T , CM000666.2:g.110642066G>T | GRCh38 |
| NC_000004.11:g.111563222G>T , CM000666.1:g.111563222G>T | GRCh37 |
| NC_000004.10:g.111782671G>T | NCBI36 |
| NG_007120.1:g.287C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001204397.1:c.-1766C>A | NP_001191326.1:n.-1766C>A |
| NM_001204398.1:c.-158C>A | NP_001191327.1:n.-158C>A |
| NM_001204399.1:c.-158C>A | NP_001191328.1:n.-158C>A |
| NM_153426.2:c.-1532C>A | NP_700475.1:n.-1532C>A |
| NM_153427.2:c.-1532C>A | NP_700476.1:n.-1532C>A |
| ENST00000511837.5:c.-158C>A | ENSP00000421454.1:n.-158C>A |
| ENST00000613094.4:c.-1532C>A | ENSP00000484763.1:n.-1532C>A |
| ENST00000614423.4:c.-158C>A | ENSP00000481951.1:n.-158C>A |
| ENST00000616641.4:c.-1532C>A | ENSP00000484909.1:n.-1532C>A |