Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27751043G= , CM000684.2:g.27751043G= | GRCh38 |
| NC_000022.10:g.28147031G= , CM000684.1:g.28147031G= | GRCh37 |
| NC_000022.9:g.26477031G= | NCBI36 |
| NG_023258.1:g.55456C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703102.1:n.360C= | ||
| ENST00000302326.5:c.3835C= MANE Select | ENSP00000304956.4:p.Gln1279= | |
| ENST00000302326.4:c.3835C= | ENSP00000304956.4:p.Gln1279= | |
| ENST00000424656.1:c.188C= | ||
| ENST00000497225.1:n.191C= | ||
| NM_002430.2:c.3835C= | NP_002421.3:p.Gln1279= | |
| NM_002430.3:c.3835C= MANE Select | NP_002421.3:p.Gln1279= |