Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31326535G>C , CM000680.2:g.31326535G>C | GRCh38 |
| NC_000018.9:g.28906498G>C , CM000680.1:g.28906498G>C | GRCh37 |
| NC_000018.8:g.27160496G>C | NCBI36 |
| NG_011803.2:g.13447G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257192.5:c.49-46G>C MANE Select | ENSP00000257192.4:n.49-46G>C | |
| ENST00000257192.4:c.49-46G>C | ENSP00000257192.4:n.49-46G>C | |
| NM_001942.3:c.49-46G>C | NP_001933.2:n.49-46G>C | |
| NM_001942.4:c.49-46G>C MANE Select | NP_001933.2:n.49-46G>C |