Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.54286285G= , CM000678.2:g.54286285G= | GRCh38 |
| NC_000016.9:g.54320197G= , CM000678.1:g.54320197G= | GRCh37 |
| NC_000016.8:g.52877698G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024336.3:c.-235C= MANE Select | NP_077312.2:n.-235C= |
| ENST00000329734.4:c.-235C= MANE Select | ENSP00000331608.3:n.-235C= |
| NM_024336.2:c.-235C= | NP_077312.2:n.-235C= |
| ENST00000329734.3:c.-235C= | ENSP00000331608.3:n.-235C= |
| ENST00000558180.2:n.46+394C= | |
| XM_005256139.2:c.-235C= | XP_005256196.1:n.-235C= |
| XM_005256139.3:c.-235C= | XP_005256196.1:n.-235C= |