Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15524988G>A , CM000663.2:g.15524988G>A | GRCh38 |
| NC_000001.10:g.15851483G>A , CM000663.1:g.15851483G>A | GRCh37 |
| NC_000001.9:g.15724070G>A | NCBI36 |
| NG_029188.1:g.4803C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000469637.1:c.-239+1203C>T | ENSP00000480785.1:n.-239+1203C>T | |
| XM_011542272.1:c.-118+1203C>T | XP_011540574.1:n.-118+1203C>T |