Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27751045A>T , CM000684.2:g.27751045A>T | GRCh38 |
| NC_000022.10:g.28147033A>T , CM000684.1:g.28147033A>T | GRCh37 |
| NC_000022.9:g.26477033A>T | NCBI36 |
| NG_023258.1:g.55454T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.358T>A | ||
| ENST00000302326.5:c.3833T>A MANE Select | ENSP00000304956.4:p.Leu1278Ter | |
| ENST00000302326.4:c.3833T>A | ENSP00000304956.4:p.Leu1278Ter | |
| ENST00000424656.1:c.186T>A | ||
| ENST00000497225.1:n.189T>A | ||
| NM_002430.2:c.3833T>A | NP_002421.3:p.Leu1278Ter | |
| NM_002430.3:c.3833T>A MANE Select | NP_002421.3:p.Leu1278Ter |