Linked Data
ClinVar Variation Id:
1567667
ClinVar RCV Id:
RCV002210149
dbSNP Id:
rs752166678
ExAC:
X:41205856 G / A
gnomAD v2:
X-41205856-G-A
gnomAD v3:
X-41346603-G-A
gnomAD v4:
X-41346603-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41346603G>A , CM000685.2:g.41346603G>A | GRCh38 |
| NC_000023.10:g.41205856G>A , CM000685.1:g.41205856G>A | GRCh37 |
| NC_000023.9:g.41090800G>A | NCBI36 |
| NG_012830.1:g.18206G>A | |
| NG_012830.2:g.18206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642322.2:c.1728G>A | ENSP00000496052.2:p.Thr576= | |
| ENST00000399959.7:c.1593G>A | ENSP00000382840.3:p.Thr531= | |
| ENST00000441189.4:c.1497G>A | ENSP00000414281.3:p.Thr499= | |
| ENST00000457138.7:c.1548G>A | ENSP00000392494.2:p.Thr516= | |
| ENST00000611968.2:c.190G>A | ||
| ENST00000616050.3:c.344G>A | ||
| ENST00000629496.3:c.1596G>A | ENSP00000487224.1:p.Thr532= | |
| ENST00000642161.1:n.3795G>A | ||
| ENST00000642322.1:c.1038G>A | ENSP00000496052.1:p.Thr346= | |
| ENST00000642424.1:c.1038G>A | ENSP00000496356.1:p.Thr346= | |
| ENST00000642589.1:n.4918G>A | ||
| ENST00000642597.1:n.1770G>A | ||
| ENST00000642687.1:n.1629G>A | ||
| ENST00000642722.1:n.2429G>A | ||
| ENST00000642763.1:n.2487G>A | ||
| ENST00000642793.1:c.*1045G>A | ENSP00000493976.1:n.*1045G>A | |
| ENST00000642801.1:n.1245G>A | ||
| ENST00000643820.1:n.966G>A | ||
| ENST00000643963.1:c.*878G>A | ENSP00000495264.1:n.*878G>A | |
| ENST00000644073.1:c.1554G>A | ENSP00000493475.1:p.Thr518= | |
| ENST00000644074.1:c.1593G>A | ENSP00000496663.1:p.Thr531= | |
| ENST00000644109.1:c.1758G>A | ENSP00000494952.1:p.Thr586= | |
| ENST00000644307.1:n.1766G>A | ||
| ENST00000644513.1:c.1596G>A | ENSP00000493819.1:p.Thr532= | |
| ENST00000644677.1:c.1479G>A | ENSP00000496524.1:p.Thr493= | |
| ENST00000644876.2:c.1596G>A MANE Select | ENSP00000494040.1:p.Thr532= | |
| ENST00000644958.1:n.3257G>A | ||
| ENST00000645080.1:c.*2818G>A | ENSP00000494767.1:n.*2818G>A | |
| ENST00000645120.1:n.3091G>A | ||
| ENST00000645338.1:n.1766G>A | ||
| ENST00000645380.1:n.3060G>A | ||
| ENST00000645561.1:n.2772G>A | ||
| ENST00000645574.1:n.4460G>A | ||
| ENST00000645589.1:c.*95G>A | ENSP00000494588.1:n.*95G>A | |
| ENST00000646107.1:c.1479G>A | ENSP00000494518.1:p.Thr493= | |
| ENST00000646122.1:c.1596G>A | ENSP00000496222.1:p.Thr532= | |
| ENST00000646196.1:n.2565G>A | ||
| ENST00000646223.1:c.*1589G>A | ENSP00000496043.1:n.*1589G>A | |
| ENST00000646319.1:c.1596G>A | ENSP00000495377.1:p.Thr532= | |
| ENST00000646390.1:n.3884G>A | ||
| ENST00000646627.1:c.1038G>A | ENSP00000493795.1:p.Thr346= | |
| ENST00000646679.1:c.1038G>A | ENSP00000494887.1:p.Thr346= | |
| ENST00000646822.1:n.2658G>A | ||
| ENST00000646940.1:n.1770G>A | ||
| ENST00000647286.1:n.1694G>A | ||
| ENST00000647477.1:n.335G>A | ||
| ENST00000399959.6:c.1596G>A | ENSP00000382840.2:p.Thr532= | |
| ENST00000441189.3:c.341-1037G>A | ENSP00000414281.2:n.341-1037G>A | |
| ENST00000457138.6:c.1548G>A | ENSP00000392494.2:p.Thr516= | |
| ENST00000478993.5:c.1596G>A | ENSP00000478443.1:p.Thr532= | |
| ENST00000611968.1:c.38G>A | ||
| ENST00000616050.2:c.149G>A | ||
| ENST00000625837.2:c.1596G>A | ENSP00000486306.1:p.Thr532= | |
| ENST00000626301.2:c.1596G>A | ENSP00000486443.1:p.Thr532= | |
| ENST00000629496.2:c.1596G>A | ENSP00000487224.1:p.Thr532= | |
| ENST00000629785.2:c.1596G>A | ENSP00000486516.1:p.Thr532= | |
| ENST00000630255.2:c.1596G>A | ENSP00000486720.1:p.Thr532= | |
| ENST00000630370.2:c.1596G>A | ENSP00000487062.1:p.Thr532= | |
| ENST00000630858.2:c.1596G>A | ENSP00000486514.1:p.Thr532= | |
| NM_001193416.2:c.1596G>A | NP_001180345.1:p.Thr532= | |
| NM_001193417.2:c.1548G>A | NP_001180346.1:p.Thr516= | |
| NM_001356.4:c.1596G>A | NP_001347.3:p.Thr532= | |
| NR_126093.1:n.2541G>A | ||
| XM_011543892.1:c.1596G>A | XP_011542194.1:p.Thr532= | |
| NM_001363819.1:c.1038G>A | NP_001350748.1:p.Thr346= | |
| XM_011543892.2:c.1596G>A | XP_011542194.1:p.Thr532= | |
| XM_017029313.1:c.1038G>A | XP_016884802.1:p.Thr346= | |
| NM_001193416.3:c.1596G>A | NP_001180345.1:p.Thr532= | |
| NM_001193417.3:c.1548G>A | NP_001180346.1:p.Thr516= | |
| NM_001356.5:c.1596G>A MANE Select | NP_001347.3:p.Thr532= |