Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48467802G>A , CM000665.2:g.48467802G>A | GRCh38 |
| NC_000003.11:g.48509201G>A , CM000665.1:g.48509201G>A | GRCh37 |
| NC_000003.10:g.48484205G>A | NCBI36 |
| NG_009820.1:g.6973G>A | |
| NG_033100.1:g.38059C>T | |
| NG_009820.2:g.6973G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296444.6:c.*1305C>T | ENSP00000296444.2:n.*1305C>T | |
| ENST00000619810.4:c.*1305C>T | ENSP00000484992.1:n.*1305C>T | |
| NM_001272065.1:c.*1305C>T | NP_001258994.1:n.*1305C>T | |
| NM_001272066.1:c.*1305C>T | NP_001258995.1:n.*1305C>T | |
| NM_001272067.1:c.*1305C>T | NP_001258996.1:n.*1305C>T | |
| NM_001272068.1:c.*1305C>T | NP_001258997.1:n.*1305C>T | |
| NM_001272082.1:c.*1305C>T | NP_001259011.1:n.*1305C>T | |
| NM_001272083.1:c.*1536C>T | NP_001259012.1:n.*1536C>T | |
| NM_016479.4:c.*1305C>T | NP_057563.3:n.*1305C>T |