Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48683782G>A , CM000685.2:g.48683782G>A | GRCh38 |
| NC_000023.10:g.48542171G>A , CM000685.1:g.48542171G>A | GRCh37 |
| NC_000023.9:g.48427115G>A | NCBI36 |
| NG_007877.1:g.4986G>A , LRG_125:g.4986G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698625.1:c.-34-38G>A | ENSP00000513844.1:n.-34-38G>A | |
| ENST00000376701.4:c.-72G>A | ENSP00000365891.4:n.-72G>A | |
| ENST00000450772.5:c.-34-38G>A | ENSP00000410537.1:n.-34-38G>A | |
| XM_017029786.1:c.-72G>A | XP_016885275.1:n.-72G>A |