Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150832423T>A , CM000669.2:g.150832423T>A | GRCh38 |
| NC_000007.13:g.150529511T>A , CM000669.1:g.150529511T>A | GRCh37 |
| NC_000007.12:g.150160444T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000467291.5:c.-93+5021T>A | ENSP00000418328.1:n.-93+5021T>A | |
| ENST00000493429.5:c.-93+5021T>A | ENSP00000418614.1:n.-93+5021T>A | |
| XM_011516008.1:c.-182+5021T>A | XP_011514310.1:n.-182+5021T>A | |
| XR_928169.1:n.352-3515A>T | ||
| XR_928170.1:n.482-3515A>T | ||
| XR_928171.1:n.354-3515A>T | ||
| XM_017011944.1:c.-93+5021T>A | XP_016867433.1:n.-93+5021T>A | |
| XM_017011945.1:c.-93+5021T>A | XP_016867434.1:n.-93+5021T>A | |
| XR_928169.2:n.358-3515A>T | ||
| XR_928171.2:n.358-3515A>T |