dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26200449A>C , CM000668.2:g.26200449A>C | GRCh38 |
| NC_000006.11:g.26200677A>C , CM000668.1:g.26200677A>C | GRCh37 |
| NC_000006.10:g.26308656A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356530.5:c.*510A>C | ENSP00000348924.3:n.*510A>C |