Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27751039C>T , CM000684.2:g.27751039C>T | GRCh38 |
| NC_000022.10:g.28147027C>T , CM000684.1:g.28147027C>T | GRCh37 |
| NC_000022.9:g.26477027C>T | NCBI36 |
| NG_023258.1:g.55460G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703102.1:n.364G>A | ||
| ENST00000302326.5:c.3839G>A MANE Select | ENSP00000304956.4:p.Cys1280Tyr | |
| ENST00000302326.4:c.3839G>A | ENSP00000304956.4:p.Cys1280Tyr | |
| ENST00000424656.1:c.192G>A | ||
| ENST00000497225.1:n.195G>A | ||
| NM_002430.2:c.3839G>A | NP_002421.3:p.Cys1280Tyr | |
| NM_002430.3:c.3839G>A MANE Select | NP_002421.3:p.Cys1280Tyr |