Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88639180G>A , CM000678.2:g.88639180G>A | GRCh38 |
| NC_000016.9:g.88705588G>A , CM000678.1:g.88705588G>A | GRCh37 |
| NC_000016.8:g.87233089G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244241.5:c.206G>A MANE Select | ENSP00000244241.4:p.Ser69Asn | |
| ENST00000244241.4:c.206G>A | ENSP00000244241.4:p.Ser69Asn | |
| ENST00000569133.1:n.590G>A | ||
| NM_013278.3:c.206G>A | NP_037410.1:p.Ser69Asn | |
| NM_013278.4:c.206G>A MANE Select | NP_037410.1:p.Ser69Asn |