Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233657C>T , CM000667.2:g.55233657C>T | GRCh38 |
| NC_000005.9:g.54529485C>T , CM000667.1:g.54529485C>T | GRCh37 |
| NC_000005.8:g.54565242C>T | NCBI36 |
| NG_034201.1:g.5061G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.4:c.-134G>A | ENSP00000282572.4:n.-134G>A | |
| NM_021147.4:c.-134G>A | NP_066970.3:n.-134G>A | |
| NR_125346.1:n.61G>A | ||
| NR_125347.1:n.61G>A |