Linked Data
ClinVar Variation Id:
419531
dbSNP Id:
rs771109295
ExAC:
2:215593501 A / C
gnomAD v2:
2-215593501-A-C
gnomAD v4:
2-214728777-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728777A>C , CM000664.2:g.214728777A>C | GRCh38 |
| NC_000002.11:g.215593501A>C , CM000664.1:g.215593501A>C | GRCh37 |
| NC_000002.10:g.215301746A>C | NCBI36 |
| NG_012047.2:g.85928T>G | |
| NG_012047.3:g.85935T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2233T>G MANE Select | ENSP00000260947.4:p.Tyr745Asp | |
| ENST00000421162.2:c.880T>G | ENSP00000392245.2:p.Tyr294Asp | |
| ENST00000613192.2:c.*296T>G | ENSP00000483275.2:n.*296T>G | |
| ENST00000613374.5:c.823T>G | ENSP00000484464.1:p.Tyr275Asp | |
| ENST00000613706.5:c.1825T>G | ENSP00000484976.2:p.Tyr609Asp | |
| ENST00000617164.5:c.2176T>G | ENSP00000480470.1:p.Tyr726Asp | |
| ENST00000619009.5:c.694T>G | ENSP00000482293.1:p.Tyr232Asp | |
| ENST00000650978.1:c.3608T>G | ||
| ENST00000260947.8:c.2233T>G | ENSP00000260947.4:p.Tyr745Asp | |
| ENST00000432456.5:c.376T>G | ||
| ENST00000455743.5:c.*1853T>G | ENSP00000412186.1:n.*1853T>G | |
| ENST00000471590.5:n.568T>G | ||
| ENST00000613192.1:c.403T>G | ENSP00000483275.1:p.Tyr135Asp | |
| ENST00000613374.4:c.823T>G | ENSP00000484464.1:p.Tyr275Asp | |
| ENST00000613706.4:c.880T>G | ENSP00000484976.1:p.Tyr294Asp | |
| ENST00000617164.4:c.2176T>G | ENSP00000480470.1:p.Tyr726Asp | |
| ENST00000619009.4:c.694T>G | ENSP00000482293.1:p.Tyr232Asp | |
| ENST00000620057.4:c.*899T>G | ENSP00000481988.1:n.*899T>G | |
| NM_000465.3:c.2233T>G | NP_000456.2:p.Tyr745Asp | |
| NM_001282543.1:c.2176T>G | NP_001269472.1:p.Tyr726Asp | |
| NM_001282545.1:c.880T>G | NP_001269474.1:p.Tyr294Asp | |
| NM_001282548.1:c.823T>G | NP_001269477.1:p.Tyr275Asp | |
| NM_001282549.1:c.694T>G | NP_001269478.1:p.Tyr232Asp | |
| NR_104212.1:n.2226T>G | ||
| NR_104215.1:n.2169T>G | ||
| NR_104216.1:n.1425T>G | ||
| XM_011511567.1:c.2179T>G | XP_011509869.1:p.Tyr727Asp | |
| XM_017004613.1:c.2332T>G | XP_016860102.1:p.Tyr778Asp | |
| XR_002959322.1:n.2599T>G | ||
| NM_000465.4:c.2233T>G MANE Select | NP_000456.2:p.Tyr745Asp | |
| NM_001282543.2:c.2176T>G | NP_001269472.1:p.Tyr726Asp | |
| NM_001282545.2:c.880T>G | NP_001269474.1:p.Tyr294Asp | |
| NM_001282548.2:c.823T>G | NP_001269477.1:p.Tyr275Asp | |
| NM_001282549.2:c.694T>G | NP_001269478.1:p.Tyr232Asp | |
| NR_104212.2:n.2198T>G | ||
| NR_104215.2:n.2141T>G | ||
| NR_104216.2:n.1397T>G |