Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.60005046G>A , CM000677.2:g.60005046G>A | GRCh38 |
| NC_000015.9:g.60297245G>A , CM000677.1:g.60297245G>A | GRCh37 |
| NC_000015.8:g.58084537G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012182.3:c.83G>A MANE Select | NP_036314.2:p.Ser28Asn |
| ENST00000396057.6:c.83G>A MANE Select | ENSP00000379369.4:p.Ser28Asn |
| NM_012182.2:c.83G>A | NP_036314.2:p.Ser28Asn |
| ENST00000396057.5:c.83G>A | ENSP00000379369.4:p.Ser28Asn |
| ENST00000560857.1:n.410+403G>A |