Linked Data
ClinVar Variation Id:
159933
dbSNP Id:
rs201523857
ExAC:
X:135067686 G / T
gnomAD v2:
X-135067686-G-T
gnomAD v3:
X-135985527-G-T
gnomAD v4:
X-135985527-G-T
ERepo:
CA295170/MONDO:0010278/016
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.135985527G>T , CM000685.2:g.135985527G>T | GRCh38 |
| NC_000023.10:g.135067686G>T , CM000685.1:g.135067686G>T | GRCh37 |
| NC_000023.9:g.134895352G>T | NCBI36 |
| NG_017160.1:g.5101G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370695.8:c.25G>T | ENSP00000359729.4:p.Ala9Ser | |
| ENST00000370701.6:c.-57+50G>T | ENSP00000359735.1:n.-57+50G>T | |
| ENST00000630721.3:c.-57+50G>T MANE Select | ENSP00000487486.2:n.-57+50G>T | |
| ENST00000636092.1:c.-56-76G>T | ENSP00000490406.1:n.-56-76G>T | |
| ENST00000636347.1:c.-35-97G>T | ENSP00000490648.1:n.-35-97G>T | |
| ENST00000637195.1:c.-35-97G>T | ENSP00000490330.1:n.-35-97G>T | |
| ENST00000637234.1:c.-56-76G>T | ENSP00000490527.1:n.-56-76G>T | |
| ENST00000637581.1:c.-56-76G>T | ENSP00000490731.1:n.-56-76G>T | |
| ENST00000678163.1:c.25G>T | ENSP00000502845.1:p.Ala9Ser | |
| ENST00000370695.6:c.25G>T | ENSP00000359729.4:p.Ala9Ser | |
| ENST00000370698.7:c.25G>T | ENSP00000359732.3:p.Ala9Ser | |
| ENST00000370701.5:c.-57+50G>T | ENSP00000359735.1:n.-57+50G>T | |
| ENST00000627534.2:c.-57+55G>T | ENSP00000486743.1:n.-57+55G>T | |
| NM_001042537.1:c.25G>T | NP_001036002.1:p.Ala9Ser | |
| NM_001177651.1:c.-57+50G>T | NP_001171122.1:n.-57+50G>T | |
| NM_006359.2:c.25G>T | NP_006350.1:p.Ala9Ser | |
| XM_006724726.2:c.-57+55G>T | XP_006724789.1:n.-57+55G>T | |
| XM_011531243.1:c.-57+55G>T | XP_011529545.1:n.-57+55G>T | |
| NM_001330652.1:c.-57+55G>T | NP_001317581.1:n.-57+55G>T | |
| XM_006724726.3:c.-57+55G>T | XP_006724789.1:n.-57+55G>T | |
| XM_017029223.2:c.-56-76G>T | XP_016884712.1:n.-56-76G>T | |
| XM_017029224.1:c.-56-76G>T | XP_016884713.1:n.-56-76G>T | |
| XM_017029225.1:c.-57+50G>T | XP_016884714.1:n.-57+50G>T | |
| NM_001177651.2:c.-57+50G>T | NP_001171122.1:n.-57+50G>T | |
| NM_001330652.2:c.-57+55G>T | NP_001317581.1:n.-57+55G>T | |
| NM_006359.3:c.25G>T | NP_006350.1:p.Ala9Ser | |
| NM_001042537.2:c.25G>T | NP_001036002.1:p.Ala9Ser | |
| NM_001379110.1:c.-57+50G>T MANE Select | NP_001366039.1:n.-57+50G>T | |
| NM_001400909.1:c.-35-97G>T | NP_001387838.1:n.-35-97G>T | |
| NM_001400910.1:c.-56-76G>T | NP_001387839.1:n.-56-76G>T | |
| NM_001400911.1:c.-56-76G>T | NP_001387840.1:n.-56-76G>T | |
| NM_001400912.1:c.-57+55G>T | NP_001387841.1:n.-57+55G>T | |
| NM_001400913.1:c.-57+50G>T | NP_001387842.1:n.-57+50G>T |