dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.17933286A>C , CM000664.2:g.17933286A>C | GRCh38 |
| NC_000002.11:g.18114553A>C , CM000664.1:g.18114553A>C | GRCh37 |
| NC_000002.10:g.17978034A>C | NCBI36 |
| NG_012873.1:g.59609A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465292.5:n.305+15415A>C |