Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99352953G>C , CM000666.2:g.99352953G>C | GRCh38 |
| NC_000004.11:g.100274110G>C , CM000666.1:g.100274110G>C | GRCh37 |
| NC_000004.10:g.100493133G>C | NCBI36 |
| NG_011718.1:g.4808C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.5:c.-278C>G | ENSP00000426083.1:n.-278C>G | |
| NM_000669.4:c.-278C>G | NP_000660.1:n.-278C>G | |
| NR_133005.1:n.93C>G | ||
| XM_011531588.1:c.-278C>G | XP_011529890.1:n.-278C>G | |
| XM_011531589.1:c.-518C>G | XP_011529891.1:n.-518C>G |