Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37874223A>G , CM000667.2:g.37874223A>G | GRCh38 |
| NC_000005.9:g.37874325A>G , CM000667.1:g.37874325A>G | GRCh37 |
| NC_000005.8:g.37910082A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001278094.1:c.-700A>G | NP_001265023.1:n.-700A>G | |
| NR_103441.1:n.367A>G | ||
| NR_103442.1:n.2676A>G | ||
| XM_011513926.1:c.-700A>G | XP_011512228.1:n.-700A>G | |
| NR_103441.2:n.367A>G | ||
| NR_145476.1:n.386A>G |