Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10643983G= , CM000682.2:g.10643983G= | GRCh38 |
| NC_000020.10:g.10624631G= , CM000682.1:g.10624631G= | GRCh37 |
| NC_000020.9:g.10572631G= | NCBI36 |
| NG_007496.1:g.35064C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2373-120C= MANE Select | ENSP00000254958.4:n.2373-120C= | |
| ENST00000617965.2:n.2962-120C= | ||
| ENST00000254958.9:c.2373-120C= | ENSP00000254958.4:n.2373-120C= | |
| ENST00000423891.6:n.2239-120C= | ||
| NM_000214.2:c.2373-120C= | NP_000205.1:n.2373-120C= | |
| NM_000214.3:c.2373-120C= MANE Select | NP_000205.1:n.2373-120C= |