Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20425158C>A , CM000684.2:g.20425158C>A | GRCh38 |
| NC_000022.10:g.20779448C>A , CM000684.1:g.20779448C>A | GRCh37 |
| NC_000022.9:g.19109448C>A | NCBI36 |
| NG_031868.2:g.17702G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622235.5:c.*217G>T MANE Select | ENSP00000477564.2:n.*217G>T | |
| ENST00000615031.4:c.*217G>T | ENSP00000479389.1:n.*217G>T | |
| ENST00000622235.4:c.*217G>T | ENSP00000477564.1:n.*217G>T | |
| ENST00000623402.1:c.*217G>T | ENSP00000485276.1:n.*217G>T | |
| NM_153334.6:c.*217G>T | NP_699165.3:n.*217G>T | |
| NM_182895.4:c.*217G>T | NP_878315.2:n.*217G>T | |
| NM_153334.7:c.*217G>T | NP_699165.3:n.*217G>T | |
| NM_182895.5:c.*217G>T MANE Select | NP_878315.2:n.*217G>T |