Linked Data
dbSNP Id:
rs758300511
ExAC:
X:41205564 C / T
gnomAD v2:
X-41205564-C-T
gnomAD v4:
X-41346311-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41346311C>T , CM000685.2:g.41346311C>T | GRCh38 |
| NC_000023.10:g.41205564C>T , CM000685.1:g.41205564C>T | GRCh37 |
| NC_000023.9:g.41090508C>T | NCBI36 |
| NG_012830.1:g.17914C>T | |
| NG_012830.2:g.17914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642322.2:c.1530C>T | ENSP00000496052.2:p.Tyr510= | |
| ENST00000399959.7:c.1395C>T | ENSP00000382840.3:p.Tyr465= | |
| ENST00000441189.4:c.1299C>T | ENSP00000414281.3:p.Tyr433= | |
| ENST00000457138.7:c.1350C>T | ENSP00000392494.2:p.Tyr450= | |
| ENST00000616050.3:c.146C>T | ||
| ENST00000629496.3:c.1398C>T | ENSP00000487224.1:p.Tyr466= | |
| ENST00000642161.1:n.3597C>T | ||
| ENST00000642322.1:c.840C>T | ENSP00000496052.1:p.Tyr280= | |
| ENST00000642424.1:c.840C>T | ENSP00000496356.1:p.Tyr280= | |
| ENST00000642589.1:n.4720C>T | ||
| ENST00000642597.1:n.1572C>T | ||
| ENST00000642687.1:n.1431C>T | ||
| ENST00000642722.1:n.2231C>T | ||
| ENST00000642763.1:n.2289C>T | ||
| ENST00000642793.1:c.*847C>T | ENSP00000493976.1:n.*847C>T | |
| ENST00000642801.1:n.1047C>T | ||
| ENST00000643820.1:n.674C>T | ||
| ENST00000643963.1:c.*680C>T | ENSP00000495264.1:n.*680C>T | |
| ENST00000644073.1:c.1356C>T | ENSP00000493475.1:p.Tyr452= | |
| ENST00000644074.1:c.1395C>T | ENSP00000496663.1:p.Tyr465= | |
| ENST00000644109.1:c.1560C>T | ENSP00000494952.1:p.Tyr520= | |
| ENST00000644307.1:n.1568C>T | ||
| ENST00000644513.1:c.1398C>T | ENSP00000493819.1:p.Tyr466= | |
| ENST00000644677.1:c.1281C>T | ENSP00000496524.1:p.Tyr427= | |
| ENST00000644876.2:c.1398C>T MANE Select | ENSP00000494040.1:p.Tyr466= | |
| ENST00000644958.1:n.3059C>T | ||
| ENST00000645080.1:c.*2620C>T | ENSP00000494767.1:n.*2620C>T | |
| ENST00000645120.1:n.2893C>T | ||
| ENST00000645338.1:n.1568C>T | ||
| ENST00000645380.1:n.2862C>T | ||
| ENST00000645561.1:n.2574C>T | ||
| ENST00000645574.1:n.4262C>T | ||
| ENST00000645589.1:c.1398C>T | ENSP00000494588.1:p.Tyr466= | |
| ENST00000646107.1:c.1281C>T | ENSP00000494518.1:p.Tyr427= | |
| ENST00000646122.1:c.1398C>T | ENSP00000496222.1:p.Tyr466= | |
| ENST00000646196.1:n.2367C>T | ||
| ENST00000646223.1:c.*1391C>T | ENSP00000496043.1:n.*1391C>T | |
| ENST00000646319.1:c.1398C>T | ENSP00000495377.1:p.Tyr466= | |
| ENST00000646390.1:n.3686C>T | ||
| ENST00000646627.1:c.840C>T | ENSP00000493795.1:p.Tyr280= | |
| ENST00000646679.1:c.840C>T | ENSP00000494887.1:p.Tyr280= | |
| ENST00000646822.1:n.2460C>T | ||
| ENST00000646940.1:n.1572C>T | ||
| ENST00000647286.1:n.1496C>T | ||
| ENST00000647477.1:n.137C>T | ||
| ENST00000399959.6:c.1398C>T | ENSP00000382840.2:p.Tyr466= | |
| ENST00000441189.3:c.341-1329C>T | ENSP00000414281.2:n.341-1329C>T | |
| ENST00000457138.6:c.1350C>T | ENSP00000392494.2:p.Tyr450= | |
| ENST00000478993.5:c.1398C>T | ENSP00000478443.1:p.Tyr466= | |
| ENST00000542215.5:n.1446C>T | ||
| ENST00000625837.2:c.1398C>T | ENSP00000486306.1:p.Tyr466= | |
| ENST00000626301.2:c.1398C>T | ENSP00000486443.1:p.Tyr466= | |
| ENST00000629496.2:c.1398C>T | ENSP00000487224.1:p.Tyr466= | |
| ENST00000629785.2:c.1398C>T | ENSP00000486516.1:p.Tyr466= | |
| ENST00000630255.2:c.1398C>T | ENSP00000486720.1:p.Tyr466= | |
| ENST00000630370.2:c.1398C>T | ENSP00000487062.1:p.Tyr466= | |
| ENST00000630858.2:c.1398C>T | ENSP00000486514.1:p.Tyr466= | |
| NM_001193416.2:c.1398C>T | NP_001180345.1:p.Tyr466= | |
| NM_001193417.2:c.1350C>T | NP_001180346.1:p.Tyr450= | |
| NM_001356.4:c.1398C>T | NP_001347.3:p.Tyr466= | |
| NR_126093.1:n.2343C>T | ||
| XM_011543892.1:c.1398C>T | XP_011542194.1:p.Tyr466= | |
| NM_001363819.1:c.840C>T | NP_001350748.1:p.Tyr280= | |
| XM_011543892.2:c.1398C>T | XP_011542194.1:p.Tyr466= | |
| XM_017029313.1:c.840C>T | XP_016884802.1:p.Tyr280= | |
| NM_001193416.3:c.1398C>T | NP_001180345.1:p.Tyr466= | |
| NM_001193417.3:c.1350C>T | NP_001180346.1:p.Tyr450= | |
| NM_001356.5:c.1398C>T MANE Select | NP_001347.3:p.Tyr466= |