Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110281321G>C , CM000674.2:g.110281321G>C | GRCh38 |
| NC_000012.11:g.110719126G>C , CM000674.1:g.110719126G>C | GRCh37 |
| NC_000012.10:g.109203509G>C | NCBI36 |
| NG_007097.2:g.4695G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_170665.4:c.-469G>C MANE Select | NP_733765.1:n.-469G>C |
| ENST00000539276.7:c.-469G>C MANE Select | ENSP00000440045.2:n.-469G>C |
| NM_001681.3:c.-469G>C | NP_001672.1:n.-469G>C |
| NM_001681.4:c.-469G>C | NP_001672.1:n.-469G>C |
| NM_170665.3:c.-469G>C | NP_733765.1:n.-469G>C |
| ENST00000308664.10:c.-469G>C | ENSP00000311186.6:n.-469G>C |
| ENST00000377685.9:c.-469G>C | ENSP00000366913.4:n.-469G>C |
| ENST00000552636.1:c.-184+357G>C | ENSP00000447406.1:n.-184+357G>C |
| ENST00000552636.2:c.-258+357G>C | ENSP00000447406.2:n.-258+357G>C |