Linked Data
ClinVar Variation Id:
197791
dbSNP Id:
rs55727094
ExAC:
X:48935284 C / A
gnomAD v2:
X-48935284-C-A
gnomAD v3:
X-49077625-C-A
gnomAD v4:
X-49077625-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49077625C>A , CM000685.2:g.49077625C>A | GRCh38 |
| NC_000023.10:g.48935284C>A , CM000685.1:g.48935284C>A | GRCh37 |
| NC_000023.9:g.48822228C>A | NCBI36 |
| NG_033004.1:g.27776G>T | |
| NG_033004.2:g.28546G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376372.9:c.235+18G>T MANE Select | ENSP00000365551.3:n.235+18G>T | |
| ENST00000322995.13:c.235+18G>T | ENSP00000365543.5:n.235+18G>T | |
| ENST00000356463.7:c.235+18G>T | ENSP00000348848.3:n.235+18G>T | |
| ENST00000367375.8:c.104+18G>T | ||
| ENST00000376357.1:n.429G>T | ||
| ENST00000376358.4:c.130+212G>T | ENSP00000365536.3:n.130+212G>T | |
| ENST00000376368.7:c.235+18G>T | ENSP00000365546.2:n.235+18G>T | |
| ENST00000376372.8:c.235+18G>T | ENSP00000365551.3:n.235+18G>T | |
| ENST00000396681.9:c.130+212G>T | ENSP00000379913.5:n.130+212G>T | |
| ENST00000419567.7:c.235+18G>T | ENSP00000393640.3:n.235+18G>T | |
| ENST00000423215.3:c.235+18G>T | ENSP00000397657.3:n.235+18G>T | |
| ENST00000465382.6:c.235+18G>T | ENSP00000420534.1:n.235+18G>T | |
| ENST00000465431.6:n.254-41G>T | ||
| ENST00000465806.6:n.518G>T | ||
| ENST00000471338.6:c.235+18G>T | ENSP00000418466.2:n.235+18G>T | |
| ENST00000473974.5:c.235+18G>T | ENSP00000417211.1:n.235+18G>T | |
| ENST00000474053.6:c.235+18G>T | ENSP00000420728.1:n.235+18G>T | |
| ENST00000475880.6:c.130+212G>T | ENSP00000418919.2:n.130+212G>T | |
| ENST00000476728.5:c.130+212G>T | ENSP00000419324.1:n.130+212G>T | |
| ENST00000485908.6:c.130+212G>T | ENSP00000419897.1:n.130+212G>T | |
| ENST00000496803.6:n.435G>T | ||
| ENST00000634390.1:n.425G>T | ||
| ENST00000634522.1:c.235+18G>T | ENSP00000489330.1:n.235+18G>T | |
| ENST00000634559.1:c.235+18G>T | ENSP00000488986.1:n.235+18G>T | |
| ENST00000634711.1:n.524G>T | ||
| ENST00000634736.1:c.130+212G>T | ENSP00000489561.1:n.130+212G>T | |
| ENST00000634838.1:c.235+18G>T | ENSP00000489268.1:n.235+18G>T | |
| ENST00000634849.1:c.301+18G>T | ENSP00000489150.1:n.301+18G>T | |
| ENST00000634944.1:c.235+18G>T | ENSP00000488972.1:n.235+18G>T | |
| ENST00000635003.1:c.235+18G>T | ENSP00000489080.1:n.235+18G>T | |
| ENST00000635344.1:c.130+212G>T | ENSP00000489553.1:n.130+212G>T | |
| ENST00000635666.1:c.163+18G>T | ENSP00000489128.1:n.163+18G>T | |
| NM_001029896.1:c.235+18G>T | NP_001025067.1:n.235+18G>T | |
| NM_007075.3:c.235+18G>T | NP_009006.2:n.235+18G>T | |
| NM_001029896.2:c.235+18G>T MANE Select | NP_001025067.1:n.235+18G>T | |
| NM_007075.4:c.235+18G>T | NP_009006.2:n.235+18G>T |