dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20954872A>C , CM000669.2:g.20954872A>C | GRCh38 |
| NC_000007.13:g.20994491A>C , CM000669.1:g.20994491A>C | GRCh37 |
| NC_000007.12:g.20961016A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_126381.1:n.152-65996A>C |