Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22726627G>C , CM000669.2:g.22726627G>C | GRCh38 |
| NC_000007.13:g.22766246G>C , CM000669.1:g.22766246G>C | GRCh37 |
| NC_000007.12:g.22732771G>C | NCBI36 |
| NG_011640.1:g.4481G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_131935.1:n.132C>G | ||
| XM_011515390.1:c.-85+369G>C | XP_011513692.1:p.= | |
| XM_011515390.2:c.-85+369G>C | XP_011513692.1:p.= | |
| ENST00000404625.5:c.-85+369G>C | ENSP00000385675.1:p.= |