Linked Data
ClinVar Variation Id:
446289
dbSNP Id:
rs1555975458
gnomAD v4:
X-41534705-C-T
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41534705C>T , CM000685.2:g.41534705C>T | GRCh38 |
| NC_000023.10:g.41393958C>T , CM000685.1:g.41393958C>T | GRCh37 |
| NC_000023.9:g.41278902C>T | NCBI36 |
| NG_016754.1:g.393330G>A | |
| NG_016754.2:g.393330G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378154.3:c.2266+1G>A | ENSP00000367396.2:n.2266+1G>A | |
| ENST00000378158.6:c.2263+1G>A | ENSP00000367400.2:n.2263+1G>A | |
| ENST00000378163.7:c.2317+1G>A MANE Select | ENSP00000367405.1:n.2317+1G>A | |
| ENST00000378166.9:c.2215+1G>A | ENSP00000367408.5:n.2215+1G>A | |
| ENST00000378168.8:c.2320+1G>A | ENSP00000367410.4:n.2320+1G>A | |
| ENST00000378179.9:c.937+1G>A | ENSP00000367421.4:n.937+1G>A | |
| ENST00000421587.8:c.2248+1G>A | ENSP00000400526.4:n.2248+1G>A | |
| ENST00000442742.7:c.2179+1G>A | ENSP00000398007.3:n.2179+1G>A | |
| ENST00000642499.1:n.1096+1G>A | ||
| ENST00000643733.1:c.89+1G>A | ||
| ENST00000644219.1:c.2299+1G>A | ENSP00000495357.1:n.2299+1G>A | |
| ENST00000644347.1:c.2230+1G>A | ENSP00000494183.1:n.2230+1G>A | |
| ENST00000645566.1:c.2302+1G>A | ENSP00000494788.1:n.2302+1G>A | |
| ENST00000645937.2:n.2548+1G>A | ||
| ENST00000645986.2:c.2284+1G>A | ENSP00000494409.2:n.2284+1G>A | |
| ENST00000646087.2:c.1639+1G>A | ENSP00000495510.2:n.1639+1G>A | |
| ENST00000646120.2:c.2233+1G>A | ENSP00000495291.2:n.2233+1G>A | |
| ENST00000675354.1:c.2251+1G>A | ENSP00000502315.1:n.2251+1G>A | |
| ENST00000378158.5:c.2266+1G>A | ENSP00000367400.1:n.2266+1G>A | |
| ENST00000378163.5:c.2317+1G>A | ENSP00000367405.1:n.2317+1G>A | |
| ENST00000378166.8:c.2302+1G>A | ENSP00000367408.4:n.2302+1G>A | |
| ENST00000378168.6:c.682+1G>A | ENSP00000367410.2:n.682+1G>A | |
| ENST00000378179.7:c.1093+1G>A | ENSP00000367421.3:n.1093+1G>A | |
| ENST00000421587.6:c.2230+1G>A | ENSP00000400526.2:n.2230+1G>A | |
| ENST00000442742.6:c.2233+1G>A | ENSP00000398007.2:n.2233+1G>A | |
| NM_001126054.2:c.2233+1G>A | NP_001119526.1:n.2233+1G>A | |
| NM_001126055.2:c.2230+1G>A | NP_001119527.1:n.2230+1G>A | |
| NM_003688.3:c.2302+1G>A | NP_003679.2:n.2302+1G>A | |
| XM_005272686.3:c.2299+1G>A | XP_005272743.1:n.2299+1G>A | |
| XM_006724566.2:c.2194+1G>A | XP_006724629.1:n.2194+1G>A | |
| XM_011543993.1:c.2317+1G>A | XP_011542295.1:n.2317+1G>A | |
| XM_011543994.1:c.2281+1G>A | XP_011542296.1:n.2281+1G>A | |
| XM_011543995.1:c.2248+1G>A | XP_011542297.1:n.2248+1G>A | |
| XM_011543996.1:c.2212+1G>A | XP_011542298.1:n.2212+1G>A | |
| XM_011543997.1:c.1744+1G>A | XP_011542299.1:n.1744+1G>A | |
| XM_005272686.4:c.2299+1G>A | XP_005272743.1:n.2299+1G>A | |
| XM_006724566.3:c.2194+1G>A | XP_006724629.1:n.2194+1G>A | |
| XM_011543993.2:c.2317+1G>A | XP_011542295.1:n.2317+1G>A | |
| XM_011543994.2:c.2281+1G>A | XP_011542296.1:n.2281+1G>A | |
| XM_011543995.2:c.2248+1G>A | XP_011542297.1:n.2248+1G>A | |
| XM_011543996.2:c.2212+1G>A | XP_011542298.1:n.2212+1G>A | |
| XM_011543997.3:c.1744+1G>A | XP_011542299.1:n.1744+1G>A | |
| XM_024452473.1:c.1639+1G>A | XP_024308241.1:n.1639+1G>A | |
| NM_001367721.1:c.2317+1G>A MANE Select | NP_001354650.1:n.2317+1G>A |