Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41621293G>A , CM000684.2:g.41621293G>A | GRCh38 |
| NC_000022.10:g.42017297G>A , CM000684.1:g.42017297G>A | GRCh37 |
| NC_000022.9:g.40347243G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360079.7:c.-68G>A | ENSP00000353192.3:n.-68G>A | |
| ENST00000428575.6:c.-105G>A | ENSP00000403679.3:n.-105G>A | |
| ENST00000464116.2:n.9G>A | ||
| NM_001288977.1:c.-68G>A | NP_001275906.1:n.-68G>A | |
| NM_001288978.1:c.-105G>A | NP_001275907.1:n.-105G>A | |
| NM_001469.4:c.-68G>A | NP_001460.1:n.-68G>A |