Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37874216C>T , CM000667.2:g.37874216C>T | GRCh38 |
| NC_000005.9:g.37874318C>T , CM000667.1:g.37874318C>T | GRCh37 |
| NC_000005.8:g.37910075C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001278094.1:c.-707C>T | NP_001265023.1:n.-707C>T | |
| NR_103441.1:n.360C>T | ||
| NR_103442.1:n.2669C>T | ||
| XM_011513926.1:c.-707C>T | XP_011512228.1:n.-707C>T | |
| NR_103441.2:n.360C>T | ||
| NR_145476.1:n.379C>T |