Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541511A>G , CM000664.2:g.232541511A>G | GRCh38 |
| NC_000002.11:g.233406221A>G , CM000664.1:g.233406221A>G | GRCh37 |
| NC_000002.10:g.233114465A>G | NCBI36 |
| NG_012954.1:g.6785A>G | |
| NG_012954.2:g.6820A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.488A>G MANE Select | ENSP00000498757.1:p.Asn163Ser | |
| ENST00000389492.3:c.350+800A>G | ENSP00000374143.3:n.350+800A>G | |
| ENST00000389494.7:c.488A>G | ENSP00000374145.3:p.Asn163Ser | |
| ENST00000485094.1:n.509A>G | ||
| NM_005199.4:c.488A>G | NP_005190.4:p.Asn163Ser | |
| NM_005199.5:c.488A>G MANE Select | NP_005190.4:p.Asn163Ser |