Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26607918G= , CM000684.2:g.26607918G= | GRCh38 |
| NC_000022.10:g.27003882G= , CM000684.1:g.27003882G= | GRCh37 |
| NC_000022.9:g.25333882G= | NCBI36 |
| NG_009826.1:g.15110C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647569.1:n.215C= | ||
| ENST00000647684.1:c.403C= MANE Select | ENSP00000497249.1:p.Arg135= | |
| ENST00000215939.2:c.403C= | ENSP00000215939.2:p.Arg135= | |
| NM_001887.3:c.403C= | NP_001878.1:p.Arg135= | |
| XM_011529899.1:c.403C= | XP_011528201.1:p.Arg135= | |
| NM_001887.4:c.403C= MANE Select | NP_001878.1:p.Arg135= | |
| XM_011529899.3:c.403C= | XP_011528201.1:p.Arg135= |