Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233654T>G , CM000667.2:g.55233654T>G | GRCh38 |
| NC_000005.9:g.54529482T>G , CM000667.1:g.54529482T>G | GRCh37 |
| NC_000005.8:g.54565239T>G | NCBI36 |
| NG_034201.1:g.5064A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.4:c.-131A>C | ENSP00000282572.4:n.-131A>C | |
| NM_021147.4:c.-131A>C | NP_066970.3:n.-131A>C | |
| NR_125346.1:n.64A>C | ||
| NR_125347.1:n.64A>C |