Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141515017G>A , CM000667.2:g.141515017G>A | GRCh38 |
| NC_000005.9:g.140894584G>A , CM000667.1:g.140894584G>A | GRCh37 |
| NC_000005.8:g.140874768G>A | NCBI36 |
| NG_011594.1:g.109039C>T | |
| NG_011594.2:g.109039C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389054.7:c.*1834C>T | ENSP00000373706.4:n.*1834C>T | |
| ENST00000476339.1:n.2605C>T | ||
| XM_011537572.1:c.*1834C>T | XP_011535874.1:n.*1834C>T | |
| XM_011537573.1:c.*1834C>T | XP_011535875.1:n.*1834C>T | |
| XM_024454384.1:c.*1834C>T | XP_024310152.1:n.*1834C>T | |
| XM_024454385.1:c.*1834C>T | XP_024310153.1:n.*1834C>T | |
| XM_024454386.1:c.*1834C>T | XP_024310154.1:n.*1834C>T | |
| XM_024454387.1:c.*1834C>T | XP_024310155.1:n.*1834C>T |