dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36860804G>T , CM000684.2:g.36860804G>T | GRCh38 |
| NC_000022.10:g.37256846G>T , CM000684.1:g.37256846G>T | GRCh37 |
| NC_000022.9:g.35586792G>T | NCBI36 |
| NG_023400.1:g.4817G>T , LRG_159:g.4817G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_147197.1:n.351+9289C>A |