Linked Data
ClinVar Variation Id:
184919
dbSNP Id:
rs747122703
ExAC:
2:215593499 A / G
gnomAD v2:
2-215593499-A-G
gnomAD v3:
2-214728775-A-G
gnomAD v4:
2-214728775-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728775A>G , CM000664.2:g.214728775A>G | GRCh38 |
| NC_000002.11:g.215593499A>G , CM000664.1:g.215593499A>G | GRCh37 |
| NC_000002.10:g.215301744A>G | NCBI36 |
| NG_012047.2:g.85930T>C | |
| NG_012047.3:g.85937T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2235T>C MANE Select | ENSP00000260947.4:p.Tyr745= | |
| ENST00000421162.2:c.882T>C | ENSP00000392245.2:p.Tyr294= | |
| ENST00000613192.2:c.*298T>C | ENSP00000483275.2:n.*298T>C | |
| ENST00000613374.5:c.825T>C | ENSP00000484464.1:p.Tyr275= | |
| ENST00000613706.5:c.1827T>C | ENSP00000484976.2:p.Tyr609= | |
| ENST00000617164.5:c.2178T>C | ENSP00000480470.1:p.Tyr726= | |
| ENST00000619009.5:c.696T>C | ENSP00000482293.1:p.Tyr232= | |
| ENST00000650978.1:c.3610T>C | ||
| ENST00000260947.8:c.2235T>C | ENSP00000260947.4:p.Tyr745= | |
| ENST00000432456.5:c.378T>C | ||
| ENST00000455743.5:c.*1855T>C | ENSP00000412186.1:n.*1855T>C | |
| ENST00000471590.5:n.570T>C | ||
| ENST00000613192.1:c.405T>C | ENSP00000483275.1:p.Tyr135= | |
| ENST00000613374.4:c.825T>C | ENSP00000484464.1:p.Tyr275= | |
| ENST00000613706.4:c.882T>C | ENSP00000484976.1:p.Tyr294= | |
| ENST00000617164.4:c.2178T>C | ENSP00000480470.1:p.Tyr726= | |
| ENST00000619009.4:c.696T>C | ENSP00000482293.1:p.Tyr232= | |
| ENST00000620057.4:c.*901T>C | ENSP00000481988.1:n.*901T>C | |
| NM_000465.3:c.2235T>C | NP_000456.2:p.Tyr745= | |
| NM_001282543.1:c.2178T>C | NP_001269472.1:p.Tyr726= | |
| NM_001282545.1:c.882T>C | NP_001269474.1:p.Tyr294= | |
| NM_001282548.1:c.825T>C | NP_001269477.1:p.Tyr275= | |
| NM_001282549.1:c.696T>C | NP_001269478.1:p.Tyr232= | |
| NR_104212.1:n.2228T>C | ||
| NR_104215.1:n.2171T>C | ||
| NR_104216.1:n.1427T>C | ||
| XM_011511567.1:c.2181T>C | XP_011509869.1:p.Tyr727= | |
| XM_017004613.1:c.2334T>C | XP_016860102.1:p.Tyr778= | |
| XR_002959322.1:n.2601T>C | ||
| NM_000465.4:c.2235T>C MANE Select | NP_000456.2:p.Tyr745= | |
| NM_001282543.2:c.2178T>C | NP_001269472.1:p.Tyr726= | |
| NM_001282545.2:c.882T>C | NP_001269474.1:p.Tyr294= | |
| NM_001282548.2:c.825T>C | NP_001269477.1:p.Tyr275= | |
| NM_001282549.2:c.696T>C | NP_001269478.1:p.Tyr232= | |
| NR_104212.2:n.2200T>C | ||
| NR_104215.2:n.2143T>C | ||
| NR_104216.2:n.1399T>C |