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