Linked Data
ClinVar Variation Id:
127733
dbSNP Id:
rs587780028
gnomAD v3:
2-214728803-T-A
gnomAD v4:
2-214728803-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728803T>A , CM000664.2:g.214728803T>A | GRCh38 |
| NC_000002.11:g.215593527T>A , CM000664.1:g.215593527T>A | GRCh37 |
| NC_000002.10:g.215301772T>A | NCBI36 |
| NG_012047.2:g.85902A>T | |
| NG_012047.3:g.85909A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2207A>T MANE Select | ENSP00000260947.4:p.Tyr736Phe | |
| ENST00000421162.2:c.854A>T | ENSP00000392245.2:p.Tyr285Phe | |
| ENST00000613192.2:c.*270A>T | ENSP00000483275.2:n.*270A>T | |
| ENST00000613374.5:c.797A>T | ENSP00000484464.1:p.Tyr266Phe | |
| ENST00000613706.5:c.1799A>T | ENSP00000484976.2:p.Tyr600Phe | |
| ENST00000617164.5:c.2150A>T | ENSP00000480470.1:p.Tyr717Phe | |
| ENST00000619009.5:c.668A>T | ENSP00000482293.1:p.Tyr223Phe | |
| ENST00000650978.1:c.3582A>T | ||
| ENST00000260947.8:c.2207A>T | ENSP00000260947.4:p.Tyr736Phe | |
| ENST00000432456.5:c.350A>T | ||
| ENST00000455743.5:c.*1827A>T | ENSP00000412186.1:n.*1827A>T | |
| ENST00000471590.5:n.542A>T | ||
| ENST00000613192.1:c.377A>T | ENSP00000483275.1:p.Tyr126Phe | |
| ENST00000613374.4:c.797A>T | ENSP00000484464.1:p.Tyr266Phe | |
| ENST00000613706.4:c.854A>T | ENSP00000484976.1:p.Tyr285Phe | |
| ENST00000617164.4:c.2150A>T | ENSP00000480470.1:p.Tyr717Phe | |
| ENST00000619009.4:c.668A>T | ENSP00000482293.1:p.Tyr223Phe | |
| ENST00000620057.4:c.*873A>T | ENSP00000481988.1:n.*873A>T | |
| NM_000465.3:c.2207A>T | NP_000456.2:p.Tyr736Phe | |
| NM_001282543.1:c.2150A>T | NP_001269472.1:p.Tyr717Phe | |
| NM_001282545.1:c.854A>T | NP_001269474.1:p.Tyr285Phe | |
| NM_001282548.1:c.797A>T | NP_001269477.1:p.Tyr266Phe | |
| NM_001282549.1:c.668A>T | NP_001269478.1:p.Tyr223Phe | |
| NR_104212.1:n.2200A>T | ||
| NR_104215.1:n.2143A>T | ||
| NR_104216.1:n.1399A>T | ||
| XM_011511567.1:c.2153A>T | XP_011509869.1:p.Tyr718Phe | |
| XM_017004613.1:c.2306A>T | XP_016860102.1:p.Tyr769Phe | |
| XR_002959322.1:n.2573A>T | ||
| NM_000465.4:c.2207A>T MANE Select | NP_000456.2:p.Tyr736Phe | |
| NM_001282543.2:c.2150A>T | NP_001269472.1:p.Tyr717Phe | |
| NM_001282545.2:c.854A>T | NP_001269474.1:p.Tyr285Phe | |
| NM_001282548.2:c.797A>T | NP_001269477.1:p.Tyr266Phe | |
| NM_001282549.2:c.668A>T | NP_001269478.1:p.Tyr223Phe | |
| NR_104212.2:n.2172A>T | ||
| NR_104215.2:n.2115A>T | ||
| NR_104216.2:n.1371A>T |