Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36661540C>A , CM000676.2:g.36661540C>A | GRCh38 |
| NC_000014.8:g.37130745C>A , CM000676.1:g.37130745C>A | GRCh37 |
| NC_000014.7:g.36200496C>A | NCBI36 |
| NG_013357.1:g.8973C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006194.3:c.-393-157C>A | NP_006185.1:n.-393-157C>A |
| NM_006194.4:c.-393-157C>A | NP_006185.1:n.-393-157C>A |
| ENST00000402703.6:c.-393-157C>A | ENSP00000384817.2:n.-393-157C>A |
| ENST00000553267.4:n.334-157C>A | |
| ENST00000555639.1:n.218-465C>A | |
| ENST00000555639.2:c.-79-471C>A | ENSP00000501203.1:n.-79-471C>A |
| XR_943758.1:n.151G>T | |
| XR_943758.2:n.151G>T | |
| XR_943759.1:n.151G>T |