Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233611G>C , CM000667.2:g.55233611G>C | GRCh38 |
| NC_000005.9:g.54529439G>C , CM000667.1:g.54529439G>C | GRCh37 |
| NC_000005.8:g.54565196G>C | NCBI36 |
| NG_034201.1:g.5107C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.4:c.-88C>G | ENSP00000282572.4:n.-88C>G | |
| NM_021147.4:c.-88C>G | NP_066970.3:n.-88C>G | |
| NR_125346.1:n.107C>G | ||
| NR_125347.1:n.107C>G |