Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114077G>C , CM000667.2:g.140114077G>C | GRCh38 |
| NC_000005.9:g.139493662G>C , CM000667.1:g.139493662G>C | GRCh37 |
| NC_000005.8:g.139473846G>C | NCBI36 |
| NG_041813.1:g.4955G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505703.2:c.-105G>C | ENSP00000498560.1:n.-105G>C | |
| ENST00000651386.1:c.-105G>C | ENSP00000499133.1:n.-105G>C | |
| ENST00000502351.1:n.319G>C | ||
| ENST00000505703.1:n.361G>C |