dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33580617G>C , CM000668.2:g.33580617G>C | GRCh38 |
| NC_000006.11:g.33548394G>C , CM000668.1:g.33548394G>C | GRCh37 |
| NC_000006.10:g.33656372G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612409.1:n.363-3249G>C |