Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48683791G>A , CM000685.2:g.48683791G>A | GRCh38 |
| NC_000023.10:g.48542180G>A , CM000685.1:g.48542180G>A | GRCh37 |
| NC_000023.9:g.48427124G>A | NCBI36 |
| NG_007877.1:g.4995G>A , LRG_125:g.4995G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698625.1:c.-34-29G>A | ENSP00000513844.1:n.-34-29G>A | |
| ENST00000376701.4:c.-63G>A | ENSP00000365891.4:n.-63G>A | |
| ENST00000450772.5:c.-34-29G>A | ENSP00000410537.1:n.-34-29G>A | |
| XM_011543977.1:c.-63G>A | XP_011542279.1:n.-63G>A | |
| XM_017029786.1:c.-63G>A | XP_016885275.1:n.-63G>A |