Linked Data
ClinVar Variation Id:
513510
dbSNP Id:
rs782240044
ExAC:
X:153642474 G / T
gnomAD v2:
X-153642474-G-T
gnomAD v4:
X-154414137-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154414137G>T , CM000685.2:g.154414137G>T | GRCh38 |
| NC_000023.10:g.153642474G>T , CM000685.1:g.153642474G>T | GRCh37 |
| NC_000023.9:g.153295668G>T | NCBI36 |
| NG_009634.1:g.7598G>T | |
| NG_012884.2:g.2952C>A | |
| NG_009634.2:g.7603G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.904+570G>T | ||
| ENST00000698235.1:n.1014G>T | ||
| ENST00000698317.1:n.1467G>T | ||
| ENST00000698318.1:n.1303+570G>T | ||
| ENST00000470127.2:n.648+570G>T | ||
| ENST00000475699.6:c.424+570G>T | ENSP00000419854.3:n.424+570G>T | |
| ENST00000476800.2:n.1593G>T | ||
| ENST00000483674.3:n.261+570G>T | ||
| ENST00000601016.6:c.407G>T MANE Select | ENSP00000469981.1:p.Gly136Val | |
| ENST00000612012.5:c.407G>T | ENSP00000482070.2:p.Gly136Val | |
| ENST00000612460.5:c.370+570G>T | ENSP00000481037.1:n.370+570G>T | |
| ENST00000614595.2:n.1807+570G>T | ||
| ENST00000615658.5:n.683+570G>T | ||
| ENST00000616020.5:c.461G>T | ENSP00000483636.2:p.Gly154Val | |
| ENST00000617701.5:c.*188+570G>T | ENSP00000481645.1:n.*188+570G>T | |
| ENST00000621647.2:n.1222G>T | ||
| ENST00000652354.1:c.131G>T | ENSP00000498734.1:p.Gly44Val | |
| ENST00000652358.1:c.200G>T | ENSP00000498464.1:p.Gly67Val | |
| ENST00000652390.1:c.326G>T | ENSP00000498858.1:p.Gly109Val | |
| ENST00000652476.1:n.760+570G>T | ||
| ENST00000652644.1:c.16+570G>T | ENSP00000498496.1:n.16+570G>T | |
| ENST00000652682.1:c.407G>T | ENSP00000498288.1:p.Gly136Val | |
| ENST00000652685.1:n.528+570G>T | ||
| ENST00000369776.8:c.295+570G>T | ENSP00000358791.4:n.295+570G>T | |
| ENST00000426231.5:c.323G>T | ||
| ENST00000439735.2:c.370+570G>T | ENSP00000398193.1:n.370+570G>T | |
| ENST00000470127.1:n.39+570G>T | ||
| ENST00000475699.5:c.407G>T | ENSP00000419854.2:p.Gly136Val | |
| ENST00000476679.5:n.320G>T | ||
| ENST00000476800.1:n.514G>T | ||
| ENST00000483674.2:n.79+570G>T | ||
| ENST00000483780.5:n.144+570G>T | ||
| ENST00000601016.5:c.407G>T | ENSP00000469981.1:p.Gly136Val | |
| ENST00000612012.4:c.424+570G>T | ENSP00000482070.1:n.424+570G>T | |
| ENST00000612460.4:c.370+570G>T | ENSP00000481037.1:n.370+570G>T | |
| ENST00000613002.4:c.370+570G>T | ENSP00000478154.1:n.370+570G>T | |
| ENST00000613634.4:n.690+570G>T | ||
| ENST00000615658.4:n.783+570G>T | ||
| ENST00000615986.4:c.*188+570G>T | ENSP00000480133.1:n.*188+570G>T | |
| ENST00000616020.4:c.461G>T | ENSP00000483636.1:p.Gly154Val | |
| ENST00000620808.4:c.*169+570G>T | ENSP00000479311.1:n.*169+570G>T | |
| NM_000116.4:c.407G>T | NP_000107.1:p.Gly136Val | |
| NM_001303465.1:c.461G>T | NP_001290394.1:p.Gly154Val | |
| NM_181311.3:c.370+570G>T | NP_851828.1:n.370+570G>T | |
| NM_181312.3:c.407G>T | NP_851829.1:p.Gly136Val | |
| NM_181313.3:c.370+570G>T | NP_851830.1:n.370+570G>T | |
| NR_024048.2:n.802+570G>T | ||
| XM_006724836.1:c.461G>T | XP_006724899.1:p.Gly154Val | |
| XM_006724837.1:c.424+570G>T | XP_006724900.1:n.424+570G>T | |
| XM_006724839.1:c.424+570G>T | XP_006724902.1:n.424+570G>T | |
| XM_006724841.2:c.200G>T | XP_006724904.1:p.Gly67Val | |
| XM_006724842.2:c.163+570G>T | XP_006724905.1:n.163+570G>T | |
| XM_011531189.1:c.424+570G>T | XP_011529491.1:n.424+570G>T | |
| XM_011531190.1:c.200G>T | XP_011529492.1:p.Gly67Val | |
| XM_011531191.1:c.131G>T | XP_011529493.1:p.Gly44Val | |
| XM_011531192.1:c.128G>T | XP_011529494.1:p.Gly43Val | |
| XR_938511.1:n.727+570G>T | ||
| XM_006724841.4:c.200G>T | XP_006724904.1:p.Gly67Val | |
| XM_006724842.4:c.163+570G>T | XP_006724905.1:n.163+570G>T | |
| XM_011531191.2:c.131G>T | XP_011529493.1:p.Gly44Val | |
| XM_017029761.1:c.370+570G>T | XP_016885250.1:n.370+570G>T | |
| XM_017029762.1:c.424+570G>T | XP_016885251.1:n.424+570G>T | |
| XM_017029763.1:c.370+570G>T | XP_016885252.1:n.370+570G>T | |
| XM_017029764.1:c.128G>T | XP_016885253.1:p.Gly43Val | |
| XM_017029765.2:c.163+570G>T | XP_016885254.1:n.163+570G>T | |
| XM_024452431.1:c.424+570G>T | XP_024308199.1:n.424+570G>T | |
| NM_000116.5:c.407G>T MANE Select | NP_000107.1:p.Gly136Val | |
| NM_001303465.2:c.461G>T | NP_001290394.1:p.Gly154Val | |
| NM_181311.4:c.370+570G>T | NP_851828.1:n.370+570G>T | |
| NM_181312.4:c.407G>T | NP_851829.1:p.Gly136Val | |
| NM_181313.4:c.370+570G>T | NP_851830.1:n.370+570G>T | |
| NR_024048.3:n.781+570G>T |