Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969768G>C , CM000668.2:g.31969768G>C | GRCh38 |
| NC_000006.11:g.31937545G>C , CM000668.1:g.31937545G>C | GRCh37 |
| NC_000006.10:g.32045524G>C | NCBI36 |
| NG_032652.1:g.15965G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2842G>C | ENSP00000419905.1:n.*2842G>C | |
| ENST00000697831.1:c.*53G>C | ENSP00000513453.1:n.*53G>C | |
| ENST00000697835.1:c.*3312G>C | ENSP00000513455.1:n.*3312G>C | |
| ENST00000697838.1:c.*53G>C | ENSP00000513457.1:n.*53G>C | |
| XR_926301.3:n.3810G>C |