Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644794G= , CM000682.2:g.10644794G= | GRCh38 |
| NC_000020.10:g.10625442G= , CM000682.1:g.10625442G= | GRCh37 |
| NC_000020.9:g.10573442G= | NCBI36 |
| NG_007496.1:g.34253C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2344+69C= MANE Select | ENSP00000254958.4:n.2344+69C= | |
| ENST00000617965.2:n.2933+69C= | ||
| ENST00000254958.9:c.2344+69C= | ENSP00000254958.4:n.2344+69C= | |
| ENST00000423891.6:n.2210+69C= | ||
| ENST00000488480.2:n.810C= | ||
| NM_000214.2:c.2344+69C= | NP_000205.1:n.2344+69C= | |
| NM_000214.3:c.2344+69C= MANE Select | NP_000205.1:n.2344+69C= |