Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110281516G>C , CM000674.2:g.110281516G>C | GRCh38 |
| NC_000012.11:g.110719321G>C , CM000674.1:g.110719321G>C | GRCh37 |
| NC_000012.10:g.109203704G>C | NCBI36 |
| NG_007097.2:g.4890G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_170665.4:c.-274G>C MANE Select | NP_733765.1:n.-274G>C |
| ENST00000539276.7:c.-274G>C MANE Select | ENSP00000440045.2:n.-274G>C |
| NM_001681.3:c.-274G>C | NP_001672.1:n.-274G>C |
| NM_001681.4:c.-274G>C | NP_001672.1:n.-274G>C |
| NM_170665.3:c.-274G>C | NP_733765.1:n.-274G>C |
| ENST00000308664.10:c.-274G>C | ENSP00000311186.6:n.-274G>C |
| ENST00000377685.9:c.-274G>C | ENSP00000366913.4:n.-274G>C |
| ENST00000552636.1:c.-184+552G>C | ENSP00000447406.1:n.-184+552G>C |
| ENST00000552636.2:c.-258+552G>C | ENSP00000447406.2:n.-258+552G>C |