ClinVar Variation:
COSMIC:
COSM3754495
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3655207 (MID)
Genomes Max Group AF
0.3442271 (NFE)
Exomes Max Group AF
0.36353913 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78601997G>A , CM000677.2:g.78601997G>A | GRCh38 |
| NC_000015.9:g.78894339G>A , CM000677.1:g.78894339G>A | GRCh37 |
| NC_000015.8:g.76681394G>A | NCBI36 |
| NG_016143.1:g.24299C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326828.6:c.645C>T MANE Select | ENSP00000315602.5:p.Tyr215= | |
| ENST00000326828.5:c.645C>T | ENSP00000315602.5:p.Tyr215= | |
| ENST00000348639.7:c.645C>T | ENSP00000267951.4:p.Tyr215= | |
| ENST00000558903.1:n.352C>T | ||
| ENST00000559658.5:c.645C>T | ENSP00000452896.1:p.Tyr215= | |
| NM_000743.4:c.645C>T | NP_000734.2:p.Tyr215= | |
| NM_001166694.1:c.645C>T | NP_001160166.1:p.Tyr215= | |
| NR_046313.1:n.1146C>T | ||
| XM_006720382.1:c.444C>T | XP_006720445.1:p.Tyr148= | |
| XM_011521173.1:c.564C>T | XP_011519475.1:p.Tyr188= | |
| XM_006720382.3:c.444C>T | XP_006720445.1:p.Tyr148= | |
| NM_000743.5:c.645C>T MANE Select | NP_000734.2:p.Tyr215= | |
| NM_001166694.2:c.645C>T | NP_001160166.1:p.Tyr215= | |
| NR_046313.2:n.847C>T |