dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.155924251T>C , CM000667.2:g.155924251T>C | GRCh38 |
| NC_000005.9:g.155351261T>C , CM000667.1:g.155351261T>C | GRCh37 |
| NC_000005.8:g.155283839T>C | NCBI36 |
| NG_008693.2:g.58908T>C , LRG_205:g.58908T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517913.5:c.-282+53827T>C | ENSP00000429378.1:n.-282+53827T>C | |
| XM_017009723.2:c.-208+53827T>C | XP_016865212.1:n.-208+53827T>C | |
| XM_017009724.1:c.-208+195261T>C | XP_016865213.1:n.-208+195261T>C |