Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750994C= , CM000684.2:g.27750994C= | GRCh38 |
| NC_000022.10:g.28146982C= , CM000684.1:g.28146982C= | GRCh37 |
| NC_000022.9:g.26476982C= | NCBI36 |
| NG_023258.1:g.55505G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.409G= | ||
| ENST00000302326.5:c.3884G= MANE Select | ENSP00000304956.4:p.Arg1295= | |
| ENST00000302326.4:c.3884G= | ENSP00000304956.4:p.Arg1295= | |
| ENST00000424656.1:c.237G= | ||
| ENST00000497225.1:n.240G= | ||
| NM_002430.2:c.3884G= | NP_002421.3:p.Arg1295= | |
| NM_002430.3:c.3884G= MANE Select | NP_002421.3:p.Arg1295= |