Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153725917G>C , CM000685.2:g.153725917G>C | GRCh38 |
| NC_000023.10:g.152991372G>C , CM000685.1:g.152991372G>C | GRCh37 |
| NC_000023.9:g.152644566G>C | NCBI36 |
| NG_009022.2:g.6050G>C | |
| NG_023231.1:g.3830C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.651G>C MANE Select | ENSP00000218104.3:p.Lys217Asn | |
| ENST00000218104.5:c.651G>C | ENSP00000218104.3:p.Lys217Asn | |
| ENST00000370129.4:c.96G>C | ENSP00000359147.3:p.Lys32Asn | |
| NM_000033.3:c.651G>C | NP_000024.2:p.Lys217Asn | |
| XR_938507.1:n.1067G>C | ||
| XR_938507.2:n.1067G>C | ||
| NM_000033.4:c.651G>C MANE Select | NP_000024.2:p.Lys217Asn |