Linked Data
ClinVar Variation Id:
1366411
dbSNP Id:
rs750744219
ExAC:
X:107404939 C / T
gnomAD v2:
X-107404939-C-T
gnomAD v3:
X-108161709-C-T
gnomAD v4:
X-108161709-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108161709C>T , CM000685.2:g.108161709C>T | GRCh38 |
| NC_000023.10:g.107404939C>T , CM000685.1:g.107404939C>T | GRCh37 |
| NC_000023.9:g.107291595C>T | NCBI36 |
| NG_012059.2:g.282766G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334504.12:c.4243G>A MANE Select | ENSP00000334733.7:p.Gly1415Ser | |
| ENST00000334504.11:c.4243G>A | ENSP00000334733.7:p.Gly1415Ser | |
| ENST00000372216.8:c.4246G>A | ENSP00000361290.4:p.Gly1416Ser | |
| ENST00000394872.6:c.4294G>A | ENSP00000378340.3:p.Gly1432Ser | |
| ENST00000487645.1:n.734G>A | ||
| ENST00000538570.5:c.4072G>A | ENSP00000445236.1:p.Gly1358Ser | |
| ENST00000545689.2:c.4207G>A | ENSP00000443707.2:p.Gly1403Ser | |
| ENST00000621266.4:c.4171G>A | ENSP00000482970.1:p.Gly1391Ser | |
| NM_001287758.1:c.4294G>A | NP_001274687.1:p.Gly1432Ser | |
| NM_001287759.1:c.4171G>A | NP_001274688.1:p.Gly1391Ser | |
| NM_001287760.1:c.4072G>A | NP_001274689.1:p.Gly1358Ser | |
| NM_001847.3:c.4246G>A | NP_001838.2:p.Gly1416Ser | |
| NM_033641.3:c.4243G>A | NP_378667.1:p.Gly1415Ser | |
| XM_006724617.2:c.4297G>A | XP_006724680.1:p.Gly1433Ser | |
| XM_011530852.1:c.4225G>A | XP_011529154.1:p.Gly1409Ser | |
| XM_011530853.1:c.4213G>A | XP_011529155.1:p.Gly1405Ser | |
| XM_006724617.3:c.4297G>A | XP_006724680.1:p.Gly1433Ser | |
| XM_011530852.2:c.4225G>A | XP_011529154.1:p.Gly1409Ser | |
| XM_011530853.3:c.4213G>A | XP_011529155.1:p.Gly1405Ser | |
| NM_001847.4:c.4246G>A | NP_001838.2:p.Gly1416Ser | |
| NM_033641.4:c.4243G>A MANE Select | NP_378667.1:p.Gly1415Ser | |
| NM_001287758.2:c.4294G>A | NP_001274687.1:p.Gly1432Ser | |
| NM_001287759.2:c.4171G>A | NP_001274688.1:p.Gly1391Ser | |
| NM_001287760.2:c.4072G>A | NP_001274689.1:p.Gly1358Ser |