Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31031095A>T , CM000680.2:g.31031095A>T | GRCh38 |
| NC_000018.9:g.28611061A>T , CM000680.1:g.28611061A>T | GRCh37 |
| NC_000018.8:g.26865059A>T | NCBI36 |
| NG_016782.1:g.16721T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360428.9:c.232T>A MANE Select | ENSP00000353608.4:p.Ser78Thr | |
| ENST00000360428.8:c.232T>A | ENSP00000353608.4:p.Ser78Thr | |
| ENST00000434452.5:c.232T>A | ENSP00000392068.1:p.Ser78Thr | |
| NM_001941.4:c.232T>A | NP_001932.2:p.Ser78Thr | |
| NM_024423.3:c.232T>A | NP_077741.2:p.Ser78Thr | |
| NM_001941.5:c.232T>A MANE Select | NP_001932.2:p.Ser78Thr | |
| NM_024423.4:c.232T>A | NP_077741.2:p.Ser78Thr |