Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1814414G>A , CM000667.2:g.1814414G>A | GRCh38 |
| NC_000005.9:g.1814528G>A , CM000667.1:g.1814528G>A | GRCh37 |
| NC_000005.8:g.1867528G>A | NCBI36 |
| NG_013354.1:g.18033G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274137.10:c.262G>A MANE Select | ENSP00000274137.6:p.Asp88Asn | |
| ENST00000274137.9:c.262G>A | ENSP00000274137.5:p.Asp88Asn | |
| ENST00000469176.1:c.262G>A | ENSP00000422557.1:p.Asp88Asn | |
| NM_004553.4:c.262G>A | NP_004544.1:p.Asp88Asn | |
| NM_004553.6:c.262G>A MANE Select | NP_004544.1:p.Asp88Asn |