Linked Data
dbSNP Id:
rs782162647
ExAC:
X:153648415 C / G
gnomAD v2:
X-153648415-C-G
gnomAD v4:
X-154420076-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154420076C>G , CM000685.2:g.154420076C>G | GRCh38 |
| NC_000023.10:g.153648415C>G , CM000685.1:g.153648415C>G | GRCh37 |
| NC_000023.9:g.153301609C>G | NCBI36 |
| NG_009634.1:g.13539C>G | |
| NG_009634.2:g.13542C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.1438C>G | ||
| ENST00000698317.1:n.2054C>G | ||
| ENST00000698318.1:n.1837C>G | ||
| ENST00000698319.1:n.1200C>G | ||
| ENST00000698320.1:n.1088C>G | ||
| ENST00000470127.2:n.1101C>G | ||
| ENST00000475699.6:c.592C>G | ENSP00000419854.3:p.Leu198Val | |
| ENST00000483674.3:n.510C>G | ||
| ENST00000601016.6:c.628C>G MANE Select | ENSP00000469981.1:p.Leu210Val | |
| ENST00000612012.5:c.586C>G | ENSP00000482070.2:p.Leu196Val | |
| ENST00000612460.5:c.538C>G | ENSP00000481037.1:p.Leu180Val | |
| ENST00000614595.2:n.1975C>G | ||
| ENST00000615658.5:n.1217C>G | ||
| ENST00000616020.5:c.640C>G | ENSP00000483636.2:p.Leu214Val | |
| ENST00000617701.5:c.*641C>G | ENSP00000481645.1:n.*641C>G | |
| ENST00000652354.1:c.310C>G | ENSP00000498734.1:p.Leu104Val | |
| ENST00000652358.1:c.421C>G | ENSP00000498464.1:p.Leu141Val | |
| ENST00000652390.1:c.547C>G | ENSP00000498858.1:p.Leu183Val | |
| ENST00000652476.1:n.1294C>G | ||
| ENST00000652644.1:c.241C>G | ENSP00000498496.1:p.Leu81Val | |
| ENST00000652682.1:c.685C>G | ENSP00000498288.1:p.Leu229Val | |
| ENST00000652685.1:n.981C>G | ||
| ENST00000369776.8:c.421C>G | ENSP00000358791.4:p.Leu141Val | |
| ENST00000426231.5:c.625C>G | ||
| ENST00000439735.2:c.535C>G | ENSP00000398193.1:p.Leu179Val | |
| ENST00000470127.1:n.207C>G | ||
| ENST00000475699.5:c.586C>G | ENSP00000419854.2:p.Leu196Val | |
| ENST00000494912.5:n.1317C>G | ||
| ENST00000498029.1:n.86C>G | ||
| ENST00000601016.5:c.628C>G | ENSP00000469981.1:p.Leu210Val | |
| ENST00000612460.4:c.538C>G | ENSP00000481037.1:p.Leu180Val | |
| ENST00000613002.4:c.496C>G | ENSP00000478154.1:p.Leu166Val | |
| ENST00000615658.4:n.1317C>G | ||
| ENST00000615986.4:c.*356C>G | ENSP00000480133.1:n.*356C>G | |
| ENST00000620808.4:c.*214C>G | ENSP00000479311.1:n.*214C>G | |
| NM_000116.4:c.628C>G | NP_000107.1:p.Leu210Val | |
| NM_001303465.1:c.640C>G | NP_001290394.1:p.Leu214Val | |
| NM_181311.3:c.538C>G | NP_851828.1:p.Leu180Val | |
| NM_181312.3:c.586C>G | NP_851829.1:p.Leu196Val | |
| NM_181313.3:c.496C>G | NP_851830.1:p.Leu166Val | |
| NR_024048.2:n.970C>G | ||
| XM_006724836.1:c.682C>G | XP_006724899.1:p.Leu228Val | |
| XM_006724837.1:c.550C>G | XP_006724900.1:p.Leu184Val | |
| XM_006724839.1:c.550C>G | XP_006724902.1:p.Leu184Val | |
| XM_006724841.2:c.421C>G | XP_006724904.1:p.Leu141Val | |
| XM_006724842.2:c.331C>G | XP_006724905.1:p.Leu111Val | |
| XM_011531189.1:c.469C>G | XP_011529491.1:p.Leu157Val | |
| XM_011531190.1:c.421C>G | XP_011529492.1:p.Leu141Val | |
| XM_011531191.1:c.352C>G | XP_011529493.1:p.Leu118Val | |
| XM_011531192.1:c.349C>G | XP_011529494.1:p.Leu117Val | |
| XR_938511.1:n.976C>G | ||
| XM_006724841.4:c.421C>G | XP_006724904.1:p.Leu141Val | |
| XM_006724842.4:c.331C>G | XP_006724905.1:p.Leu111Val | |
| XM_011531191.2:c.352C>G | XP_011529493.1:p.Leu118Val | |
| XM_017029761.1:c.496C>G | XP_016885250.1:p.Leu166Val | |
| XM_017029762.1:c.592C>G | XP_016885251.1:p.Leu198Val | |
| XM_017029763.1:c.415C>G | XP_016885252.1:p.Leu139Val | |
| XM_017029764.1:c.349C>G | XP_016885253.1:p.Leu117Val | |
| XM_017029765.2:c.289C>G | XP_016885254.1:p.Leu97Val | |
| XM_024452431.1:c.469C>G | XP_024308199.1:p.Leu157Val | |
| NM_000116.5:c.628C>G MANE Select | NP_000107.1:p.Leu210Val | |
| NM_001303465.2:c.640C>G | NP_001290394.1:p.Leu214Val | |
| NM_181311.4:c.538C>G | NP_851828.1:p.Leu180Val | |
| NM_181312.4:c.586C>G | NP_851829.1:p.Leu196Val | |
| NM_181313.4:c.496C>G | NP_851830.1:p.Leu166Val | |
| NR_024048.3:n.949C>G |