Linked Data
ClinVar Variation Id:
202094
dbSNP Id:
rs375151766
ExAC:
X:153648578 C / T
gnomAD v2:
X-153648578-C-T
gnomAD v3:
X-154420239-C-T
gnomAD v4:
X-154420239-C-T
COSMIC:
COSM3034259
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154420239C>T , CM000685.2:g.154420239C>T | GRCh38 |
| NC_000023.10:g.153648578C>T , CM000685.1:g.153648578C>T | GRCh37 |
| NC_000023.9:g.153301772C>T | NCBI36 |
| NG_009634.1:g.13702C>T | |
| NG_009634.2:g.13705C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.1484C>T | ||
| ENST00000698317.1:n.2100C>T | ||
| ENST00000698318.1:n.1883C>T | ||
| ENST00000698319.1:n.1246C>T | ||
| ENST00000698320.1:n.1134C>T | ||
| ENST00000470127.2:n.1147C>T | ||
| ENST00000475699.6:c.638C>T | ENSP00000419854.3:p.Pro213Leu | |
| ENST00000483674.3:n.556C>T | ||
| ENST00000601016.6:c.674C>T MANE Select | ENSP00000469981.1:p.Pro225Leu | |
| ENST00000612012.5:c.632C>T | ENSP00000482070.2:p.Pro211Leu | |
| ENST00000612460.5:c.584C>T | ENSP00000481037.1:p.Pro195Leu | |
| ENST00000614595.2:n.2021C>T | ||
| ENST00000615658.5:n.1263C>T | ||
| ENST00000616020.5:c.686C>T | ENSP00000483636.2:p.Pro229Leu | |
| ENST00000617701.5:c.*687C>T | ENSP00000481645.1:n.*687C>T | |
| ENST00000652354.1:c.356C>T | ENSP00000498734.1:p.Pro119Leu | |
| ENST00000652358.1:c.467C>T | ENSP00000498464.1:p.Pro156Leu | |
| ENST00000652390.1:c.593C>T | ENSP00000498858.1:p.Pro198Leu | |
| ENST00000652476.1:n.1340C>T | ||
| ENST00000652644.1:c.287C>T | ENSP00000498496.1:p.Pro96Leu | |
| ENST00000652682.1:c.731C>T | ENSP00000498288.1:p.Pro244Leu | |
| ENST00000652685.1:n.1027C>T | ||
| ENST00000369776.8:c.584C>T | ENSP00000358791.4:p.Pro195Leu | |
| ENST00000426231.5:c.671C>T | ||
| ENST00000475699.5:c.632C>T | ENSP00000419854.2:p.Pro211Leu | |
| ENST00000494912.5:n.1363C>T | ||
| ENST00000498029.1:n.132C>T | ||
| ENST00000601016.5:c.674C>T | ENSP00000469981.1:p.Pro225Leu | |
| ENST00000612460.4:c.584C>T | ENSP00000481037.1:p.Pro195Leu | |
| ENST00000613002.4:c.542C>T | ENSP00000478154.1:p.Pro181Leu | |
| ENST00000615986.4:c.*402C>T | ENSP00000480133.1:n.*402C>T | |
| NM_000116.4:c.674C>T | NP_000107.1:p.Pro225Leu | |
| NM_001303465.1:c.686C>T | NP_001290394.1:p.Pro229Leu | |
| NM_181311.3:c.584C>T | NP_851828.1:p.Pro195Leu | |
| NM_181312.3:c.632C>T | NP_851829.1:p.Pro211Leu | |
| NM_181313.3:c.542C>T | NP_851830.1:p.Pro181Leu | |
| NR_024048.2:n.1016C>T | ||
| XM_006724836.1:c.728C>T | XP_006724899.1:p.Pro243Leu | |
| XM_006724837.1:c.713C>T | XP_006724900.1:p.Pro238Leu | |
| XM_006724839.1:c.596C>T | XP_006724902.1:p.Pro199Leu | |
| XM_006724841.2:c.467C>T | XP_006724904.1:p.Pro156Leu | |
| XM_006724842.2:c.377C>T | XP_006724905.1:p.Pro126Leu | |
| XM_011531189.1:c.515C>T | XP_011529491.1:p.Pro172Leu | |
| XM_011531190.1:c.467C>T | XP_011529492.1:p.Pro156Leu | |
| XM_011531191.1:c.398C>T | XP_011529493.1:p.Pro133Leu | |
| XM_011531192.1:c.395C>T | XP_011529494.1:p.Pro132Leu | |
| XR_938511.1:n.1022C>T | ||
| XM_006724841.4:c.467C>T | XP_006724904.1:p.Pro156Leu | |
| XM_006724842.4:c.377C>T | XP_006724905.1:p.Pro126Leu | |
| XM_011531191.2:c.398C>T | XP_011529493.1:p.Pro133Leu | |
| XM_017029761.1:c.659C>T | XP_016885250.1:p.Pro220Leu | |
| XM_017029762.1:c.638C>T | XP_016885251.1:p.Pro213Leu | |
| XM_017029763.1:c.461C>T | XP_016885252.1:p.Pro154Leu | |
| XM_017029764.1:c.395C>T | XP_016885253.1:p.Pro132Leu | |
| XM_017029765.2:c.335C>T | XP_016885254.1:p.Pro112Leu | |
| XM_024452431.1:c.632C>T | XP_024308199.1:p.Pro211Leu | |
| NM_000116.5:c.674C>T MANE Select | NP_000107.1:p.Pro225Leu | |
| NM_001303465.2:c.686C>T | NP_001290394.1:p.Pro229Leu | |
| NM_181311.4:c.584C>T | NP_851828.1:p.Pro195Leu | |
| NM_181312.4:c.632C>T | NP_851829.1:p.Pro211Leu | |
| NM_181313.4:c.542C>T | NP_851830.1:p.Pro181Leu | |
| NR_024048.3:n.995C>T |