Linked Data
dbSNP Id:
rs1296162910
gnomAD v2:
22-42462754-G-A
gnomAD v3:
22-42066750-G-A
gnomAD v4:
22-42066750-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42066750G>A , CM000684.2:g.42066750G>A | GRCh38 |
| NC_000022.10:g.42462754G>A , CM000684.1:g.42462754G>A | GRCh37 |
| NC_000022.9:g.40792700G>A | NCBI36 |
| NG_009247.1:g.9093C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396398.8:c.557C>T MANE Select | ENSP00000379680.3:p.Ser186Phe | |
| ENST00000396398.7:c.557C>T | ENSP00000379680.3:p.Ser186Phe | |
| ENST00000402937.1:c.557C>T | ENSP00000384603.1:p.Ser186Phe | |
| ENST00000403363.5:c.557C>T | ENSP00000385283.1:p.Ser186Phe | |
| NM_000262.2:c.557C>T | NP_000253.1:p.Ser186Phe | |
| XM_005261615.3:c.557C>T | XP_005261672.1:p.Ser186Phe | |
| XM_005261616.3:c.557C>T | XP_005261673.1:p.Ser186Phe | |
| NM_001362848.1:c.557C>T | NP_001349777.1:p.Ser186Phe | |
| NM_001362850.1:c.557C>T | NP_001349779.1:p.Ser186Phe | |
| NM_000262.3:c.557C>T MANE Select | NP_000253.1:p.Ser186Phe |