Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233663C>T , CM000667.2:g.55233663C>T | GRCh38 |
| NC_000005.9:g.54529491C>T , CM000667.1:g.54529491C>T | GRCh37 |
| NC_000005.8:g.54565248C>T | NCBI36 |
| NG_034201.1:g.5055G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.4:c.-140G>A | ENSP00000282572.4:n.-140G>A | |
| NM_021147.4:c.-140G>A | NP_066970.3:n.-140G>A | |
| NR_125346.1:n.55G>A | ||
| NR_125347.1:n.55G>A |