Linked Data
ClinVar Variation Id:
202096
dbSNP Id:
rs782498694
ExAC:
X:153649060 G / A
gnomAD v2:
X-153649060-G-A
gnomAD v3:
X-154420721-G-A
gnomAD v4:
X-154420721-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154420721G>A , CM000685.2:g.154420721G>A | GRCh38 |
| NC_000023.10:g.153649060G>A , CM000685.1:g.153649060G>A | GRCh37 |
| NC_000023.9:g.153302254G>A | NCBI36 |
| NG_009634.1:g.14184G>A | |
| NG_009634.2:g.14187G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.1573G>A | ||
| ENST00000698317.1:n.2189G>A | ||
| ENST00000698318.1:n.1972G>A | ||
| ENST00000698319.1:n.1335G>A | ||
| ENST00000698320.1:n.1223G>A | ||
| ENST00000470127.2:n.1236G>A | ||
| ENST00000475699.6:c.727G>A | ENSP00000419854.3:p.Glu243Lys | |
| ENST00000483674.3:n.645G>A | ||
| ENST00000601016.6:c.763G>A MANE Select | ENSP00000469981.1:p.Glu255Lys | |
| ENST00000612012.5:c.721G>A | ENSP00000482070.2:p.Glu241Lys | |
| ENST00000612460.5:c.673G>A | ENSP00000481037.1:p.Glu225Lys | |
| ENST00000614595.2:n.2110G>A | ||
| ENST00000615658.5:n.1352G>A | ||
| ENST00000616020.5:c.775G>A | ENSP00000483636.2:p.Glu259Lys | |
| ENST00000617701.5:c.*776G>A | ENSP00000481645.1:n.*776G>A | |
| ENST00000651139.1:c.-21G>A | ENSP00000498957.1:n.-21G>A | |
| ENST00000652354.1:c.445G>A | ENSP00000498734.1:p.Glu149Lys | |
| ENST00000652358.1:c.556G>A | ENSP00000498464.1:p.Glu186Lys | |
| ENST00000652390.1:c.682G>A | ENSP00000498858.1:p.Glu228Lys | |
| ENST00000652476.1:n.1429G>A | ||
| ENST00000652644.1:c.376G>A | ENSP00000498496.1:p.Glu126Lys | |
| ENST00000652682.1:c.820G>A | ENSP00000498288.1:p.Glu274Lys | |
| ENST00000652685.1:n.1116G>A | ||
| ENST00000369776.8:c.673G>A | ENSP00000358791.4:p.Glu225Lys | |
| ENST00000426231.5:c.760G>A | ||
| ENST00000475699.5:c.721G>A | ENSP00000419854.2:p.Glu241Lys | |
| ENST00000494912.5:n.1452G>A | ||
| ENST00000498029.1:n.221G>A | ||
| ENST00000601016.5:c.763G>A | ENSP00000469981.1:p.Glu255Lys | |
| ENST00000612460.4:c.673G>A | ENSP00000481037.1:p.Glu225Lys | |
| ENST00000613002.4:c.631G>A | ENSP00000478154.1:p.Glu211Lys | |
| ENST00000615986.4:c.*491G>A | ENSP00000480133.1:n.*491G>A | |
| NM_000116.4:c.763G>A | NP_000107.1:p.Glu255Lys | |
| NM_001303465.1:c.775G>A | NP_001290394.1:p.Glu259Lys | |
| NM_181311.3:c.673G>A | NP_851828.1:p.Glu225Lys | |
| NM_181312.3:c.721G>A | NP_851829.1:p.Glu241Lys | |
| NM_181313.3:c.631G>A | NP_851830.1:p.Glu211Lys | |
| NR_024048.2:n.1105G>A | ||
| XM_006724836.1:c.817G>A | XP_006724899.1:p.Glu273Lys | |
| XM_006724837.1:c.802G>A | XP_006724900.1:p.Glu268Lys | |
| XM_006724839.1:c.685G>A | XP_006724902.1:p.Glu229Lys | |
| XM_006724841.2:c.556G>A | XP_006724904.1:p.Glu186Lys | |
| XM_006724842.2:c.466G>A | XP_006724905.1:p.Glu156Lys | |
| XM_011531189.1:c.604G>A | XP_011529491.1:p.Glu202Lys | |
| XM_011531190.1:c.556G>A | XP_011529492.1:p.Glu186Lys | |
| XM_011531191.1:c.487G>A | XP_011529493.1:p.Glu163Lys | |
| XM_011531192.1:c.484G>A | XP_011529494.1:p.Glu162Lys | |
| XR_938511.1:n.1111G>A | ||
| XM_006724841.4:c.556G>A | XP_006724904.1:p.Glu186Lys | |
| XM_006724842.4:c.466G>A | XP_006724905.1:p.Glu156Lys | |
| XM_011531191.2:c.487G>A | XP_011529493.1:p.Glu163Lys | |
| XM_017029761.1:c.748G>A | XP_016885250.1:p.Glu250Lys | |
| XM_017029762.1:c.727G>A | XP_016885251.1:p.Glu243Lys | |
| XM_017029763.1:c.550G>A | XP_016885252.1:p.Glu184Lys | |
| XM_017029764.1:c.484G>A | XP_016885253.1:p.Glu162Lys | |
| XM_017029765.2:c.424G>A | XP_016885254.1:p.Glu142Lys | |
| XM_024452431.1:c.721G>A | XP_024308199.1:p.Glu241Lys | |
| NM_000116.5:c.763G>A MANE Select | NP_000107.1:p.Glu255Lys | |
| NM_001303465.2:c.775G>A | NP_001290394.1:p.Glu259Lys | |
| NM_181311.4:c.673G>A | NP_851828.1:p.Glu225Lys | |
| NM_181312.4:c.721G>A | NP_851829.1:p.Glu241Lys | |
| NM_181313.4:c.631G>A | NP_851830.1:p.Glu211Lys | |
| NR_024048.3:n.1084G>A |