Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969753C= , CM000668.2:g.31969753C= | GRCh38 |
| NC_000006.11:g.31937530C= , CM000668.1:g.31937530C= | GRCh37 |
| NC_000006.10:g.32045509C= | NCBI36 |
| NG_032652.1:g.15950C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2827C= | ENSP00000419905.1:n.*2827C= | |
| ENST00000697831.1:c.*38C= | ENSP00000513453.1:n.*38C= | |
| ENST00000697835.1:c.*3297C= | ENSP00000513455.1:n.*3297C= | |
| ENST00000697838.1:c.*38C= | ENSP00000513457.1:n.*38C= | |
| ENST00000375394.6:c.*38C= | ENSP00000364543.2:n.*38C= | |
| NM_006929.4:c.*38C= | NP_008860.4:n.*38C= | |
| XR_926301.3:n.3795C= |