dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122626913A>T , CM000666.2:g.122626913A>T | GRCh38 |
| NC_000004.11:g.123548068A>T , CM000666.1:g.123548068A>T | GRCh37 |
| NC_000004.10:g.123767518A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_104126.1:n.2685+100A>T |