Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.24105466G>C , CM000663.2:g.24105466G>C | GRCh38 |
| NC_000001.10:g.24431956G>C , CM000663.1:g.24431956G>C | GRCh37 |
| NC_000001.9:g.24304543G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152372.4:c.560+454C>G MANE Select | NP_689585.3:n.560+454C>G |
| ENST00000374434.4:c.560+454C>G MANE Select | ENSP00000363557.3:n.560+454C>G |
| NM_152372.3:c.560+454C>G | NP_689585.3:n.560+454C>G |
| ENST00000374434.3:c.560+454C>G | ENSP00000363557.3:n.560+454C>G |
| ENST00000475306.1:n.765+454C>G |