dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28741956G>T , CM000684.2:g.28741956G>T | GRCh38 |
| NC_000022.10:g.29137944G>T , CM000684.1:g.29137944G>T | GRCh37 |
| NC_000022.9:g.27467944G>T | NCBI36 |
| NG_008150.1:g.4879C>A | |
| NG_008150.2:g.4911C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416671.5:c.-194C>A | ENSP00000402225.1:n.-194C>A |