Linked Data
ClinVar Variation Id:
531184
ClinVar RCV Id:
RCV000637296
dbSNP Id:
rs1557191170
gnomAD v4:
X-154412214-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154412214G>A , CM000685.2:g.154412214G>A | GRCh38 |
| NC_000023.10:g.153640551G>A , CM000685.1:g.153640551G>A | GRCh37 |
| NC_000023.9:g.153293745G>A | NCBI36 |
| NG_009634.1:g.5675G>A | |
| NG_012884.2:g.4875C>T | |
| NG_009634.2:g.5680G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.666G>A | ||
| ENST00000698235.1:n.225G>A | ||
| ENST00000698317.1:n.200G>A | ||
| ENST00000698318.1:n.61G>A | ||
| ENST00000475699.6:c.292G>A | ENSP00000419854.3:p.Gly98Arg | |
| ENST00000476800.2:n.203G>A | ||
| ENST00000483674.3:n.129G>A | ||
| ENST00000601016.6:c.238G>A MANE Select | ENSP00000469981.1:p.Gly80Arg | |
| ENST00000612012.5:c.238G>A | ENSP00000482070.2:p.Gly80Arg | |
| ENST00000612460.5:c.238G>A | ENSP00000481037.1:p.Gly80Arg | |
| ENST00000614595.2:n.596G>A | ||
| ENST00000615658.5:n.551G>A | ||
| ENST00000616020.5:c.292G>A | ENSP00000483636.2:p.Gly98Arg | |
| ENST00000617701.5:c.238G>A | ENSP00000481645.1:p.Gly80Arg | |
| ENST00000621647.2:n.291G>A | ||
| ENST00000652358.1:c.-57+262G>A | ENSP00000498464.1:n.-57+262G>A | |
| ENST00000652390.1:c.157G>A | ENSP00000498858.1:p.Gly53Arg | |
| ENST00000652476.1:n.399G>A | ||
| ENST00000652682.1:c.238G>A | ENSP00000498288.1:p.Gly80Arg | |
| ENST00000652685.1:n.290G>A | ||
| ENST00000369776.8:c.163+208G>A | ENSP00000358791.4:n.163+208G>A | |
| ENST00000426231.5:c.54G>A | ||
| ENST00000439735.2:c.238G>A | ENSP00000398193.1:p.Gly80Arg | |
| ENST00000475699.5:c.238G>A | ENSP00000419854.2:p.Gly80Arg | |
| ENST00000483780.5:n.12G>A | ||
| ENST00000601016.5:c.238G>A | ENSP00000469981.1:p.Gly80Arg | |
| ENST00000612012.4:c.292G>A | ENSP00000482070.1:p.Gly98Arg | |
| ENST00000612460.4:c.238G>A | ENSP00000481037.1:p.Gly80Arg | |
| ENST00000613002.4:c.238G>A | ENSP00000478154.1:p.Gly80Arg | |
| ENST00000613634.4:n.558G>A | ||
| ENST00000614595.1:n.457G>A | ||
| ENST00000615658.4:n.564G>A | ||
| ENST00000615986.4:c.238G>A | ENSP00000480133.1:p.Gly80Arg | |
| ENST00000616020.4:c.292G>A | ENSP00000483636.1:p.Gly98Arg | |
| ENST00000617701.4:c.238G>A | ENSP00000481645.1:p.Gly80Arg | |
| ENST00000620808.4:c.238G>A | ENSP00000479311.1:p.Gly80Arg | |
| ENST00000621647.1:n.523G>A | ||
| NM_000116.4:c.238G>A | NP_000107.1:p.Gly80Arg | |
| NM_001303465.1:c.292G>A | NP_001290394.1:p.Gly98Arg | |
| NM_181311.3:c.238G>A | NP_851828.1:p.Gly80Arg | |
| NM_181312.3:c.238G>A | NP_851829.1:p.Gly80Arg | |
| NM_181313.3:c.238G>A | NP_851830.1:p.Gly80Arg | |
| NR_024048.2:n.564G>A | ||
| XM_006724836.1:c.292G>A | XP_006724899.1:p.Gly98Arg | |
| XM_006724837.1:c.292G>A | XP_006724900.1:p.Gly98Arg | |
| XM_006724839.1:c.292G>A | XP_006724902.1:p.Gly98Arg | |
| XM_006724841.2:c.-57G>A | XP_006724904.1:n.-57G>A | |
| XM_006724842.2:c.-57G>A | XP_006724905.1:n.-57G>A | |
| XM_011531189.1:c.292G>A | XP_011529491.1:p.Gly98Arg | |
| XR_938511.1:n.595G>A | ||
| XM_006724841.4:c.-57G>A | XP_006724904.1:n.-57G>A | |
| XM_006724842.4:c.-57G>A | XP_006724905.1:n.-57G>A | |
| XM_017029761.1:c.238G>A | XP_016885250.1:p.Gly80Arg | |
| XM_017029762.1:c.292G>A | XP_016885251.1:p.Gly98Arg | |
| XM_017029763.1:c.238G>A | XP_016885252.1:p.Gly80Arg | |
| XM_017029765.2:c.-57G>A | XP_016885254.1:n.-57G>A | |
| XM_024452431.1:c.292G>A | XP_024308199.1:p.Gly98Arg | |
| NM_000116.5:c.238G>A MANE Select | NP_000107.1:p.Gly80Arg | |
| NM_001303465.2:c.292G>A | NP_001290394.1:p.Gly98Arg | |
| NM_181311.4:c.238G>A | NP_851828.1:p.Gly80Arg | |
| NM_181312.4:c.238G>A | NP_851829.1:p.Gly80Arg | |
| NM_181313.4:c.238G>A | NP_851830.1:p.Gly80Arg | |
| NR_024048.3:n.543G>A |