Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969769A>G , CM000668.2:g.31969769A>G | GRCh38 |
| NC_000006.11:g.31937546A>G , CM000668.1:g.31937546A>G | GRCh37 |
| NC_000006.10:g.32045525A>G | NCBI36 |
| NG_032652.1:g.15966A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2843A>G | ENSP00000419905.1:n.*2843A>G | |
| ENST00000697831.1:c.*54A>G | ENSP00000513453.1:n.*54A>G | |
| ENST00000697835.1:c.*3313A>G | ENSP00000513455.1:n.*3313A>G | |
| ENST00000697838.1:c.*54A>G | ENSP00000513457.1:n.*54A>G | |
| XR_926301.3:n.3811A>G |