Linked Data
dbSNP Id:
rs190183156
ExAC:
4:62801682 G / A
gnomAD v2:
4-62801682-G-A
gnomAD v3:
4-61935964-G-A
gnomAD v4:
4-61935964-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.61935964G>A , CM000666.2:g.61935964G>A | GRCh38 |
| NC_000004.11:g.62801682G>A , CM000666.1:g.62801682G>A | GRCh37 |
| NC_000004.10:g.62484277G>A | NCBI36 |
| NG_033950.1:g.443844G>A | |
| NG_033950.2:g.739709G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683033.1:c.2338G>A MANE Select | ENSP00000507980.1:p.Asp780Asn | |
| ENST00000502815.1:c.506G>A | ||
| ENST00000504896.5:c.2134G>A | ENSP00000423434.1:p.Asp712Asn | |
| ENST00000506700.5:c.2134G>A | ENSP00000424120.1:p.Asp712Asn | |
| ENST00000506720.5:c.2338G>A | ENSP00000420931.1:p.Asp780Asn | |
| ENST00000506746.5:c.2338G>A | ENSP00000425884.1:p.Asp780Asn | |
| ENST00000507164.5:c.2338G>A | ENSP00000421476.1:p.Asp780Asn | |
| ENST00000507625.5:c.2338G>A | ENSP00000421372.1:p.Asp780Asn | |
| ENST00000508078.1:n.342G>A | ||
| ENST00000508693.5:c.2338G>A | ENSP00000424030.1:p.Asp780Asn | |
| ENST00000508946.5:c.2134G>A | ENSP00000421627.1:p.Asp712Asn | |
| ENST00000509896.5:c.2338G>A | ENSP00000423787.1:p.Asp780Asn | |
| ENST00000511324.5:c.2338G>A | ENSP00000425033.1:p.Asp780Asn | |
| ENST00000512091.6:c.2134G>A | ENSP00000423388.1:p.Asp712Asn | |
| ENST00000514157.5:c.2134G>A | ENSP00000425201.1:p.Asp712Asn | |
| ENST00000514591.5:c.2134G>A | ENSP00000422533.1:p.Asp712Asn | |
| ENST00000514996.5:c.2134G>A | ENSP00000424258.1:p.Asp712Asn | |
| ENST00000545650.5:c.1762G>A | ENSP00000439831.2:p.Asp588Asn | |
| NM_015236.4:c.2134G>A | NP_056051.2:p.Asp712Asn | |
| XM_011531784.1:c.2323G>A | XP_011530086.1:p.Asp775Asn | |
| XM_011531785.1:c.2323G>A | XP_011530087.1:p.Asp775Asn | |
| XM_011531786.1:c.2338G>A | XP_011530088.1:p.Asp780Asn | |
| XM_011531787.1:c.2299G>A | XP_011530089.1:p.Asp767Asn | |
| XM_011531788.1:c.2338G>A | XP_011530090.1:p.Asp780Asn | |
| XM_011531789.1:c.2338G>A | XP_011530091.1:p.Asp780Asn | |
| XM_011531790.1:c.2338G>A | XP_011530092.1:p.Asp780Asn | |
| XM_011531791.1:c.2299G>A | XP_011530093.1:p.Asp767Asn | |
| XM_011531792.1:c.2134G>A | XP_011530094.1:p.Asp712Asn | |
| XM_011531793.1:c.2338G>A | XP_011530095.1:p.Asp780Asn | |
| NM_001322246.1:c.2134G>A | NP_001309175.1:p.Asp712Asn | |
| NM_001322402.1:c.2338G>A | NP_001309331.1:p.Asp780Asn | |
| NM_015236.5:c.2134G>A | NP_056051.2:p.Asp712Asn | |
| XM_011531788.2:c.2338G>A | XP_011530090.1:p.Asp780Asn | |
| XM_011531791.2:c.2299G>A | XP_011530093.1:p.Asp767Asn | |
| XM_017007929.1:c.2338G>A | XP_016863418.1:p.Asp780Asn | |
| XM_017007930.1:c.2338G>A | XP_016863419.1:p.Asp780Asn | |
| XM_017007931.1:c.2338G>A | XP_016863420.1:p.Asp780Asn | |
| XM_017007932.1:c.2338G>A | XP_016863421.1:p.Asp780Asn | |
| XM_017007933.1:c.2338G>A | XP_016863422.1:p.Asp780Asn | |
| XM_017007934.1:c.2323G>A | XP_016863423.1:p.Asp775Asn | |
| XM_017007935.1:c.2338G>A | XP_016863424.1:p.Asp780Asn | |
| XM_017007936.1:c.2299G>A | XP_016863425.1:p.Asp767Asn | |
| XM_017007937.1:c.2134G>A | XP_016863426.1:p.Asp712Asn | |
| XM_017007938.1:c.2284G>A | XP_016863427.1:p.Asp762Asn | |
| XM_017007939.1:c.2080G>A | XP_016863428.1:p.Asp694Asn | |
| XM_017007940.1:c.2338G>A | XP_016863429.1:p.Asp780Asn | |
| XM_017007941.1:c.2338G>A | XP_016863430.1:p.Asp780Asn | |
| XM_017007942.1:c.2119G>A | XP_016863431.1:p.Asp707Asn | |
| NM_001322246.2:c.2134G>A | NP_001309175.1:p.Asp712Asn | |
| NM_001322402.2:c.2338G>A | NP_001309331.1:p.Asp780Asn | |
| NM_001371342.1:c.2080G>A | NP_001358271.1:p.Asp694Asn | |
| NM_001371343.1:c.2284G>A | NP_001358272.1:p.Asp762Asn | |
| NM_001371344.1:c.2338G>A | NP_001358273.1:p.Asp780Asn | |
| NM_001371345.1:c.2299G>A | NP_001358274.1:p.Asp767Asn | |
| NM_001371346.1:c.2119G>A | NP_001358275.1:p.Asp707Asn | |
| NM_015236.6:c.2134G>A | NP_056051.2:p.Asp712Asn | |
| NM_001322246.3:c.2134G>A | NP_001309175.1:p.Asp712Asn | |
| NM_001322402.3:c.2338G>A | NP_001309331.1:p.Asp780Asn | |
| NM_001371343.2:c.2284G>A | NP_001358272.1:p.Asp762Asn | |
| NM_001371344.2:c.2338G>A | NP_001358273.1:p.Asp780Asn | |
| NM_001371345.2:c.2299G>A | NP_001358274.1:p.Asp767Asn | |
| NM_001371346.2:c.2119G>A | NP_001358275.1:p.Asp707Asn | |
| NM_001387522.1:c.2338G>A | NP_001374451.1:p.Asp780Asn | |
| NM_001387523.1:c.2284G>A | NP_001374452.1:p.Asp762Asn | |
| NM_001387524.1:c.2284G>A | NP_001374453.1:p.Asp762Asn | |
| NM_001387525.1:c.2284G>A | NP_001374454.1:p.Asp762Asn | |
| NM_001387526.1:c.2119G>A | NP_001374455.1:p.Asp707Asn | |
| NM_001387527.1:c.2119G>A | NP_001374456.1:p.Asp707Asn | |
| NM_001387528.1:c.2134G>A | NP_001374457.1:p.Asp712Asn | |
| NM_001387529.1:c.2134G>A | NP_001374458.1:p.Asp712Asn | |
| NM_001387530.1:c.2119G>A | NP_001374459.1:p.Asp707Asn | |
| NM_001387531.1:c.2119G>A | NP_001374460.1:p.Asp707Asn | |
| NM_001387532.1:c.2119G>A | NP_001374461.1:p.Asp707Asn | |
| NM_001387533.1:c.2134G>A | NP_001374462.1:p.Asp712Asn | |
| NM_001387534.1:c.2134G>A | NP_001374463.1:p.Asp712Asn | |
| NM_001387535.1:c.2119G>A | NP_001374464.1:p.Asp707Asn | |
| NM_001387536.1:c.2119G>A | NP_001374465.1:p.Asp707Asn | |
| NM_001387537.1:c.2095G>A | NP_001374466.1:p.Asp699Asn | |
| NM_001387538.1:c.2095G>A | NP_001374467.1:p.Asp699Asn | |
| NM_001387539.1:c.2095G>A | NP_001374468.1:p.Asp699Asn | |
| NM_001387540.1:c.2080G>A | NP_001374469.1:p.Asp694Asn | |
| NM_001387541.1:c.2056G>A | NP_001374470.1:p.Asp686Asn | |
| NM_001387542.1:c.2119G>A | NP_001374471.1:p.Asp707Asn | |
| NM_001387543.1:c.1837G>A | NP_001374472.1:p.Asp613Asn | |
| NM_001387544.1:c.1837G>A | NP_001374473.1:p.Asp613Asn | |
| NM_001387545.1:c.2338G>A | NP_001374474.1:p.Asp780Asn | |
| NM_001387546.1:c.2119G>A | NP_001374475.1:p.Asp707Asn | |
| NM_001387547.1:c.2134G>A | NP_001374476.1:p.Asp712Asn | |
| NM_001387548.1:c.2119G>A | NP_001374477.1:p.Asp707Asn | |
| NM_001387549.1:c.2119G>A | NP_001374478.1:p.Asp707Asn | |
| NM_001387552.1:c.2338G>A MANE Select | NP_001374481.1:p.Asp780Asn | |
| NM_015236.7:c.2134G>A | NP_056051.2:p.Asp712Asn |