Linked Data
ClinVar Variation Id:
3002487
ClinVar RCV Id:
RCV003865614
dbSNP Id:
rs762728616
ExAC:
X:41205829 A / G
gnomAD v2:
X-41205829-A-G
gnomAD v3:
X-41346576-A-G
gnomAD v4:
X-41346576-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41346576A>G , CM000685.2:g.41346576A>G | GRCh38 |
| NC_000023.10:g.41205829A>G , CM000685.1:g.41205829A>G | GRCh37 |
| NC_000023.9:g.41090773A>G | NCBI36 |
| NG_012830.1:g.18179A>G | |
| NG_012830.2:g.18179A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642322.2:c.1701A>G | ENSP00000496052.2:p.Glu567= | |
| ENST00000399959.7:c.1566A>G | ENSP00000382840.3:p.Glu522= | |
| ENST00000441189.4:c.1470A>G | ENSP00000414281.3:p.Glu490= | |
| ENST00000457138.7:c.1521A>G | ENSP00000392494.2:p.Glu507= | |
| ENST00000611968.2:c.163A>G | ||
| ENST00000616050.3:c.317A>G | ||
| ENST00000629496.3:c.1569A>G | ENSP00000487224.1:p.Glu523= | |
| ENST00000642161.1:n.3768A>G | ||
| ENST00000642322.1:c.1011A>G | ENSP00000496052.1:p.Glu337= | |
| ENST00000642424.1:c.1011A>G | ENSP00000496356.1:p.Glu337= | |
| ENST00000642589.1:n.4891A>G | ||
| ENST00000642597.1:n.1743A>G | ||
| ENST00000642687.1:n.1602A>G | ||
| ENST00000642722.1:n.2402A>G | ||
| ENST00000642763.1:n.2460A>G | ||
| ENST00000642793.1:c.*1018A>G | ENSP00000493976.1:n.*1018A>G | |
| ENST00000642801.1:n.1218A>G | ||
| ENST00000643820.1:n.939A>G | ||
| ENST00000643963.1:c.*851A>G | ENSP00000495264.1:n.*851A>G | |
| ENST00000644073.1:c.1527A>G | ENSP00000493475.1:p.Glu509= | |
| ENST00000644074.1:c.1566A>G | ENSP00000496663.1:p.Glu522= | |
| ENST00000644109.1:c.1731A>G | ENSP00000494952.1:p.Glu577= | |
| ENST00000644307.1:n.1739A>G | ||
| ENST00000644513.1:c.1569A>G | ENSP00000493819.1:p.Glu523= | |
| ENST00000644677.1:c.1452A>G | ENSP00000496524.1:p.Glu484= | |
| ENST00000644876.2:c.1569A>G MANE Select | ENSP00000494040.1:p.Glu523= | |
| ENST00000644958.1:n.3230A>G | ||
| ENST00000645080.1:c.*2791A>G | ENSP00000494767.1:n.*2791A>G | |
| ENST00000645120.1:n.3064A>G | ||
| ENST00000645338.1:n.1739A>G | ||
| ENST00000645380.1:n.3033A>G | ||
| ENST00000645561.1:n.2745A>G | ||
| ENST00000645574.1:n.4433A>G | ||
| ENST00000645589.1:c.*68A>G | ENSP00000494588.1:n.*68A>G | |
| ENST00000646107.1:c.1452A>G | ENSP00000494518.1:p.Glu484= | |
| ENST00000646122.1:c.1569A>G | ENSP00000496222.1:p.Glu523= | |
| ENST00000646196.1:n.2538A>G | ||
| ENST00000646223.1:c.*1562A>G | ENSP00000496043.1:n.*1562A>G | |
| ENST00000646319.1:c.1569A>G | ENSP00000495377.1:p.Glu523= | |
| ENST00000646390.1:n.3857A>G | ||
| ENST00000646627.1:c.1011A>G | ENSP00000493795.1:p.Glu337= | |
| ENST00000646679.1:c.1011A>G | ENSP00000494887.1:p.Glu337= | |
| ENST00000646822.1:n.2631A>G | ||
| ENST00000646940.1:n.1743A>G | ||
| ENST00000647286.1:n.1667A>G | ||
| ENST00000647477.1:n.308A>G | ||
| ENST00000399959.6:c.1569A>G | ENSP00000382840.2:p.Glu523= | |
| ENST00000441189.3:c.341-1064A>G | ENSP00000414281.2:n.341-1064A>G | |
| ENST00000457138.6:c.1521A>G | ENSP00000392494.2:p.Glu507= | |
| ENST00000478993.5:c.1569A>G | ENSP00000478443.1:p.Glu523= | |
| ENST00000611968.1:c.11A>G | ||
| ENST00000616050.2:c.122A>G | ||
| ENST00000625837.2:c.1569A>G | ENSP00000486306.1:p.Glu523= | |
| ENST00000626301.2:c.1569A>G | ENSP00000486443.1:p.Glu523= | |
| ENST00000629496.2:c.1569A>G | ENSP00000487224.1:p.Glu523= | |
| ENST00000629785.2:c.1569A>G | ENSP00000486516.1:p.Glu523= | |
| ENST00000630255.2:c.1569A>G | ENSP00000486720.1:p.Glu523= | |
| ENST00000630370.2:c.1569A>G | ENSP00000487062.1:p.Glu523= | |
| ENST00000630858.2:c.1569A>G | ENSP00000486514.1:p.Glu523= | |
| NM_001193416.2:c.1569A>G | NP_001180345.1:p.Glu523= | |
| NM_001193417.2:c.1521A>G | NP_001180346.1:p.Glu507= | |
| NM_001356.4:c.1569A>G | NP_001347.3:p.Glu523= | |
| NR_126093.1:n.2514A>G | ||
| XM_011543892.1:c.1569A>G | XP_011542194.1:p.Glu523= | |
| NM_001363819.1:c.1011A>G | NP_001350748.1:p.Glu337= | |
| XM_011543892.2:c.1569A>G | XP_011542194.1:p.Glu523= | |
| XM_017029313.1:c.1011A>G | XP_016884802.1:p.Glu337= | |
| NM_001193416.3:c.1569A>G | NP_001180345.1:p.Glu523= | |
| NM_001193417.3:c.1521A>G | NP_001180346.1:p.Glu507= | |
| NM_001356.5:c.1569A>G MANE Select | NP_001347.3:p.Glu523= |