Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6390442G>A , CM000673.2:g.6390442G>A | GRCh38 |
| NC_000011.9:g.6411672G>A , CM000673.1:g.6411672G>A | GRCh37 |
| NC_000011.8:g.6368248G>A | NCBI36 |
| NG_011780.1:g.5018G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.8:c.-157G>A | ENSP00000340409.4:n.-157G>A | |
| ENST00000533196.1:n.3G>A | ||
| NM_000543.4:c.-157G>A | NP_000534.3:n.-157G>A | |
| NM_001007593.2:c.-157G>A | NP_001007594.2:n.-157G>A | |
| XM_005253075.3:c.-157G>A | XP_005253132.1:n.-157G>A | |
| XM_011520303.1:c.-157G>A | XP_011518605.1:n.-157G>A | |
| XM_011520304.1:c.-157G>A | XP_011518606.1:n.-157G>A | |
| XR_930886.1:n.142G>A | ||
| NM_001318087.1:c.-157G>A | NP_001305016.1:n.-157G>A | |
| NM_001318088.1:c.-1118G>A | NP_001305017.1:n.-1118G>A | |
| NR_027400.2:n.29G>A | ||
| NR_134502.1:n.29G>A |