Linked Data
dbSNP Id:
rs776951793
ExAC:
22:36960903 T / A
gnomAD v2:
22-36960903-T-A
gnomAD v4:
22-36564856-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564856T>A , CM000684.2:g.36564856T>A | GRCh38 |
| NC_000022.10:g.36960903T>A , CM000684.1:g.36960903T>A | GRCh37 |
| NC_000022.9:g.35290849T>A | NCBI36 |
| NG_031861.1:g.142788A>T | |
| NG_031861.2:g.143003A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.467A>T MANE Select | ENSP00000300105.6:p.Tyr156Phe | |
| ENST00000300105.6:c.467A>T | ENSP00000300105.6:p.Tyr156Phe | |
| NM_006078.3:c.467A>T | NP_006069.1:p.Tyr156Phe | |
| NM_006078.4:c.467A>T | NP_006069.1:p.Tyr156Phe | |
| XM_017028531.2:c.209A>T | XP_016884020.1:p.Tyr70Phe | |
| NM_001379051.1:c.398A>T | NP_001365980.1:p.Tyr133Phe | |
| NM_006078.5:c.467A>T MANE Select | NP_006069.1:p.Tyr156Phe | |
| NR_166440.1:n.1833A>T |