Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992592G>T , CM000670.2:g.16992592G>T | GRCh38 |
| NC_000008.10:g.16850101G>T , CM000670.1:g.16850101G>T | GRCh37 |
| NC_000008.9:g.16894472G>T | NCBI36 |
| NG_015978.1:g.14574C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*480C>A MANE Select | ENSP00000180166.5:n.*480C>A | |
| ENST00000180166.5:c.*480C>A | ENSP00000180166.5:n.*480C>A | |
| NM_019851.3:c.*480C>A MANE Select | NP_062825.1:n.*480C>A |