Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177290G>A , CM000678.2:g.177290G>A | GRCh38 |
| NC_000016.9:g.227289G>A , CM000678.1:g.227289G>A | GRCh37 |
| NC_000016.8:g.167289G>A | NCBI36 |
| NG_000006.1:g.38153G>A | |
| NG_059186.1:g.5640G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.308G>A MANE Select | ENSP00000322421.5:p.Ser103Asn | |
| ENST00000397797.1:c.212G>A | ENSP00000380899.1:p.Ser71Asn | |
| ENST00000472694.1:n.444G>A | ||
| NM_000558.4:c.308G>A | NP_000549.1:p.Ser103Asn | |
| NM_000558.5:c.308G>A MANE Select | NP_000549.1:p.Ser103Asn |