Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.134110884C>T , CM000667.2:g.134110884C>T | GRCh38 |
| NC_000005.9:g.133446575C>T , CM000667.1:g.133446575C>T | GRCh37 |
| NC_000005.8:g.133474474C>T | NCBI36 |
| NG_030367.1:g.1174C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001401008.1:c.-175+2718G>A | NP_001387937.1:n.-175+2718G>A |