Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88126250A>T , CM000664.2:g.88126250A>T | GRCh38 |
| NC_000002.11:g.88425769A>T , CM000664.1:g.88425769A>T | GRCh37 |
| NC_000002.10:g.88206884A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001443.3:c.166T>A MANE Select | NP_001434.1:p.Ser56Thr |
| ENST00000295834.8:c.166T>A MANE Select | ENSP00000295834.3:p.Ser56Thr |
| NM_001443.2:c.166T>A | NP_001434.1:p.Ser56Thr |
| ENST00000295834.7:c.166T>A | ENSP00000295834.3:p.Ser56Thr |
| ENST00000393750.3:c.166T>A | ENSP00000377351.3:p.Ser56Thr |
| ENST00000472846.1:n.208T>A | |
| ENST00000495375.1:n.452T>A |