Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6390420C>A , CM000673.2:g.6390420C>A | GRCh38 |
| NC_000011.9:g.6411650C>A , CM000673.1:g.6411650C>A | GRCh37 |
| NC_000011.8:g.6368226C>A | NCBI36 |
| NG_011780.1:g.4996C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000543.4:c.-179C>A | NP_000534.3:n.-179C>A | |
| NM_001007593.2:c.-179C>A | NP_001007594.2:n.-179C>A | |
| XM_005253075.3:c.-179C>A | XP_005253132.1:n.-179C>A | |
| XM_011520303.1:c.-179C>A | XP_011518605.1:n.-179C>A | |
| XM_011520304.1:c.-179C>A | XP_011518606.1:n.-179C>A | |
| XR_930886.1:n.120C>A | ||
| NM_001318087.1:c.-179C>A | NP_001305016.1:n.-179C>A | |
| NM_001318088.1:c.-1140C>A | NP_001305017.1:n.-1140C>A | |
| NR_027400.2:n.7C>A | ||
| NR_134502.1:n.7C>A |