Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73408724C>T , CM000664.2:g.73408724C>T | GRCh38 |
| NC_000002.11:g.73635852C>T , CM000664.1:g.73635852C>T | GRCh37 |
| NC_000002.10:g.73489360C>T | NCBI36 |
| NG_011690.1:g.27970C>T , LRG_741:g.27970C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378454.1:c.427C>T MANE Select | NP_001365383.1:p.Gln143Ter |
| ENST00000613296.6:c.427C>T MANE Select | ENSP00000482968.1:p.Gln143Ter |
| NM_015120.4:c.430C>T , LRG_741t1:c.430C>T | NP_055935.4:p.Gln144Ter |
| ENST00000484298.5:c.325-10399C>T | ENSP00000478155.1:n.325-10399C>T |
| ENST00000613296.4:c.427C>T | ENSP00000482968.1:p.Gln143Ter |
| ENST00000614410.4:c.427C>T | ENSP00000479094.1:p.Gln143Ter |
| ENST00000682675.1:n.387C>T | |
| ENST00000682889.1:n.392C>T | |
| ENST00000684148.1:n.197-10399C>T |