Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888052C>A , CM000684.2:g.20888052C>A | GRCh38 |
| NC_000022.10:g.21242340C>A , CM000684.1:g.21242340C>A | GRCh37 |
| NC_000022.9:g.19572340C>A | NCBI36 |
| NG_012152.1:g.34049C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*216C>A MANE Select | ENSP00000215730.6:n.*216C>A | |
| ENST00000215730.11:c.*216C>A | ENSP00000215730.6:n.*216C>A | |
| NM_004782.3:c.*216C>A | NP_004773.1:n.*216C>A | |
| NM_004782.4:c.*216C>A MANE Select | NP_004773.1:n.*216C>A |