Linked Data
ClinVar Variation Id:
234467
dbSNP Id:
rs782653725
ExAC:
X:153649055 G / A
gnomAD v2:
X-153649055-G-A
gnomAD v3:
X-154420716-G-A
gnomAD v4:
X-154420716-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154420716G>A , CM000685.2:g.154420716G>A | GRCh38 |
| NC_000023.10:g.153649055G>A , CM000685.1:g.153649055G>A | GRCh37 |
| NC_000023.9:g.153302249G>A | NCBI36 |
| NG_009634.1:g.14179G>A | |
| NG_009634.2:g.14182G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.1568G>A | ||
| ENST00000698317.1:n.2184G>A | ||
| ENST00000698318.1:n.1967G>A | ||
| ENST00000698319.1:n.1330G>A | ||
| ENST00000698320.1:n.1218G>A | ||
| ENST00000470127.2:n.1231G>A | ||
| ENST00000475699.6:c.722G>A | ENSP00000419854.3:p.Arg241Gln | |
| ENST00000483674.3:n.640G>A | ||
| ENST00000601016.6:c.758G>A MANE Select | ENSP00000469981.1:p.Arg253Gln | |
| ENST00000612012.5:c.716G>A | ENSP00000482070.2:p.Arg239Gln | |
| ENST00000612460.5:c.668G>A | ENSP00000481037.1:p.Arg223Gln | |
| ENST00000614595.2:n.2105G>A | ||
| ENST00000615658.5:n.1347G>A | ||
| ENST00000616020.5:c.770G>A | ENSP00000483636.2:p.Arg257Gln | |
| ENST00000617701.5:c.*771G>A | ENSP00000481645.1:n.*771G>A | |
| ENST00000651139.1:c.-26G>A | ENSP00000498957.1:n.-26G>A | |
| ENST00000652354.1:c.440G>A | ENSP00000498734.1:p.Arg147Gln | |
| ENST00000652358.1:c.551G>A | ENSP00000498464.1:p.Arg184Gln | |
| ENST00000652390.1:c.677G>A | ENSP00000498858.1:p.Arg226Gln | |
| ENST00000652476.1:n.1424G>A | ||
| ENST00000652644.1:c.371G>A | ENSP00000498496.1:p.Arg124Gln | |
| ENST00000652682.1:c.815G>A | ENSP00000498288.1:p.Arg272Gln | |
| ENST00000652685.1:n.1111G>A | ||
| ENST00000369776.8:c.668G>A | ENSP00000358791.4:p.Arg223Gln | |
| ENST00000426231.5:c.755G>A | ||
| ENST00000475699.5:c.716G>A | ENSP00000419854.2:p.Arg239Gln | |
| ENST00000494912.5:n.1447G>A | ||
| ENST00000498029.1:n.216G>A | ||
| ENST00000601016.5:c.758G>A | ENSP00000469981.1:p.Arg253Gln | |
| ENST00000612460.4:c.668G>A | ENSP00000481037.1:p.Arg223Gln | |
| ENST00000613002.4:c.626G>A | ENSP00000478154.1:p.Arg209Gln | |
| ENST00000615986.4:c.*486G>A | ENSP00000480133.1:n.*486G>A | |
| NM_000116.4:c.758G>A | NP_000107.1:p.Arg253Gln | |
| NM_001303465.1:c.770G>A | NP_001290394.1:p.Arg257Gln | |
| NM_181311.3:c.668G>A | NP_851828.1:p.Arg223Gln | |
| NM_181312.3:c.716G>A | NP_851829.1:p.Arg239Gln | |
| NM_181313.3:c.626G>A | NP_851830.1:p.Arg209Gln | |
| NR_024048.2:n.1100G>A | ||
| XM_006724836.1:c.812G>A | XP_006724899.1:p.Arg271Gln | |
| XM_006724837.1:c.797G>A | XP_006724900.1:p.Arg266Gln | |
| XM_006724839.1:c.680G>A | XP_006724902.1:p.Arg227Gln | |
| XM_006724841.2:c.551G>A | XP_006724904.1:p.Arg184Gln | |
| XM_006724842.2:c.461G>A | XP_006724905.1:p.Arg154Gln | |
| XM_011531189.1:c.599G>A | XP_011529491.1:p.Arg200Gln | |
| XM_011531190.1:c.551G>A | XP_011529492.1:p.Arg184Gln | |
| XM_011531191.1:c.482G>A | XP_011529493.1:p.Arg161Gln | |
| XM_011531192.1:c.479G>A | XP_011529494.1:p.Arg160Gln | |
| XR_938511.1:n.1106G>A | ||
| XM_006724841.4:c.551G>A | XP_006724904.1:p.Arg184Gln | |
| XM_006724842.4:c.461G>A | XP_006724905.1:p.Arg154Gln | |
| XM_011531191.2:c.482G>A | XP_011529493.1:p.Arg161Gln | |
| XM_017029761.1:c.743G>A | XP_016885250.1:p.Arg248Gln | |
| XM_017029762.1:c.722G>A | XP_016885251.1:p.Arg241Gln | |
| XM_017029763.1:c.545G>A | XP_016885252.1:p.Arg182Gln | |
| XM_017029764.1:c.479G>A | XP_016885253.1:p.Arg160Gln | |
| XM_017029765.2:c.419G>A | XP_016885254.1:p.Arg140Gln | |
| XM_024452431.1:c.716G>A | XP_024308199.1:p.Arg239Gln | |
| NM_000116.5:c.758G>A MANE Select | NP_000107.1:p.Arg253Gln | |
| NM_001303465.2:c.770G>A | NP_001290394.1:p.Arg257Gln | |
| NM_181311.4:c.668G>A | NP_851828.1:p.Arg223Gln | |
| NM_181312.4:c.716G>A | NP_851829.1:p.Arg239Gln | |
| NM_181313.4:c.626G>A | NP_851830.1:p.Arg209Gln | |
| NR_024048.3:n.1079G>A |