Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13974638T>C , CM000673.2:g.13974638T>C | GRCh38 |
| NC_000011.9:g.13996185T>C , CM000673.1:g.13996185T>C | GRCh37 |
| NC_000011.8:g.13952761T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576479.4:c.239-8209T>C MANE Select | ENSP00000460236.1:n.239-8209T>C | |
| ENST00000576479.3:c.239-8209T>C | ENSP00000460236.1:n.239-8209T>C | |
| NM_006108.3:c.239-8209T>C | NP_006099.2:n.239-8209T>C | |
| NM_006108.4:c.239-8209T>C MANE Select | NP_006099.2:n.239-8209T>C |