ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01206957 (NFE)
Genomes Max Group AF
0.01001518 (NFE)
Exomes Max Group AF
0.01216071 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39635843C>A , CM000679.2:g.39635843C>A | GRCh38 |
| NC_000017.10:g.37792096C>A , CM000679.1:g.37792096C>A | GRCh37 |
| NC_000017.9:g.35045622C>A | NCBI36 |
| NG_030330.1:g.13920C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254079.9:c.593C>A MANE Select | ENSP00000254079.4:p.Ser198Tyr | |
| ENST00000254079.8:c.593C>A | ENSP00000254079.4:p.Ser198Tyr | |
| ENST00000394265.5:c.485C>A | ENSP00000377808.1:p.Ser162Tyr | |
| ENST00000394267.2:c.485C>A | ENSP00000377810.2:p.Ser162Tyr | |
| ENST00000492037.5:n.510C>A | ||
| ENST00000579000.5:c.494C>A | ENSP00000462841.1:p.Ser165Tyr | |
| ENST00000580029.1:n.2097C>A | ||
| ENST00000580825.5:c.593C>A | ENSP00000462137.1:p.Ser198Tyr | |
| NM_001242464.1:c.485C>A | NP_001229393.1:p.Ser162Tyr | |
| NM_032192.3:c.593C>A | NP_115568.2:p.Ser198Tyr | |
| NM_181505.3:c.485C>A | NP_852606.1:p.Ser162Tyr | |
| XM_006722137.2:c.593C>A | XP_006722200.1:p.Ser198Tyr | |
| XM_017025216.2:c.593C>A | XP_016880705.1:p.Ser198Tyr | |
| XM_017025217.2:c.485C>A | XP_016880706.1:p.Ser162Tyr | |
| NM_032192.4:c.593C>A MANE Select | NP_115568.2:p.Ser198Tyr | |
| NM_001242464.2:c.485C>A | NP_001229393.1:p.Ser162Tyr | |
| NM_181505.4:c.485C>A | NP_852606.1:p.Ser162Tyr |