dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148223504A>C , CM000667.2:g.148223504A>C | GRCh38 |
| NC_000005.9:g.147603067A>C , CM000667.1:g.147603067A>C | GRCh37 |
| NC_000005.8:g.147583260A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513133.2:n.177+1632A>C | ||
| ENST00000637618.1:n.59+1707A>C | ||
| ENST00000638059.1:c.-119+1707A>C | ENSP00000489850.1:n.-119+1707A>C |