Linked Data
ClinVar Variation Id:
44036
dbSNP Id:
rs7090408
ExAC:
10:55568589 C / T
gnomAD v2:
10-55568589-C-T
gnomAD v3:
10-53808829-C-T
gnomAD v4:
10-53808829-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53808829C>T , CM000672.2:g.53808829C>T | GRCh38 |
| NC_000010.10:g.55568589C>T , CM000672.1:g.55568589C>T | GRCh37 |
| NC_000010.9:g.55238595C>T | NCBI36 |
| NG_009191.2:g.997463G>A | |
| NG_009191.3:g.1825354G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.5236G>A | ENSP00000482794.1:p.Gly1746Ser | |
| ENST00000395445.6:c.5215G>A | ENSP00000378832.2:p.Gly1739Ser | |
| ENST00000613657.5:c.5236G>A | ENSP00000482794.1:p.Gly1746Ser | |
| ENST00000642496.1:c.3531-1699G>A | ||
| ENST00000644397.2:c.4672-1699G>A MANE Select | ENSP00000495195.1:n.4672-1699G>A | |
| ENST00000373965.6:c.4483-1699G>A | ENSP00000363076.3:n.4483-1699G>A | |
| ENST00000395438.5:c.*651G>A | ENSP00000378826.2:n.*651G>A | |
| ENST00000395440.5:c.2023G>A | ENSP00000378827.1:p.Gly675Ser | |
| ENST00000395442.5:c.1816G>A | ENSP00000378829.1:p.Gly606Ser | |
| ENST00000395445.5:c.5215G>A | ENSP00000378832.2:p.Gly1739Ser | |
| ENST00000395446.5:c.2809G>A | ENSP00000378833.1:p.Gly937Ser | |
| ENST00000409834.5:c.*651G>A | ENSP00000386693.1:n.*651G>A | |
| ENST00000414367.5:c.*1274G>A | ENSP00000412531.1:n.*1274G>A | |
| ENST00000414778.5:c.4480-1699G>A | ENSP00000410304.2:n.4480-1699G>A | |
| ENST00000476074.5:n.610-1699G>A | ||
| ENST00000495484.5:c.700-1699G>A | ENSP00000480780.1:n.700-1699G>A | |
| ENST00000612394.4:c.5233G>A | ENSP00000482921.1:p.Gly1745Ser | |
| ENST00000613657.4:c.5236G>A | ENSP00000482794.1:p.Gly1746Ser | |
| ENST00000614895.4:c.4495-1699G>A | ENSP00000478512.1:n.4495-1699G>A | |
| ENST00000615043.1:c.836G>A | ||
| ENST00000616114.4:c.4477-1699G>A | ENSP00000483745.1:n.4477-1699G>A | |
| ENST00000617271.4:c.*651G>A | ENSP00000478076.1:n.*651G>A | |
| ENST00000618301.4:c.832-1699G>A | ENSP00000482780.1:n.832-1699G>A | |
| ENST00000621708.4:c.4498-1699G>A | ENSP00000484454.1:n.4498-1699G>A | |
| NM_001142769.1:c.5236G>A | NP_001136241.1:p.Gly1746Ser | |
| NM_001142770.1:c.*651G>A | NP_001136242.1:n.*651G>A | |
| NM_001142771.1:c.4498-1699G>A | NP_001136243.1:n.4498-1699G>A | |
| NM_001142772.1:c.4483-1699G>A | NP_001136244.1:n.4483-1699G>A | |
| NM_001142769.2:c.5236G>A | NP_001136241.1:p.Gly1746Ser | |
| NM_001142770.2:c.*651G>A | NP_001136242.1:n.*651G>A | |
| NM_001354411.1:c.5215G>A | NP_001341340.1:p.Gly1739Ser | |
| NM_001354420.1:c.4477-1699G>A | NP_001341349.1:n.4477-1699G>A | |
| NM_001354429.1:c.4606-1699G>A | NP_001341358.1:n.4606-1699G>A | |
| XM_017016573.2:c.5215G>A | XP_016872062.1:p.Gly1739Ser | |
| XR_001747192.2:n.10964-1699G>A | ||
| XR_001747193.2:n.10955-1699G>A | ||
| NM_001142769.3:c.5236G>A | NP_001136241.1:p.Gly1746Ser | |
| NM_001142770.3:c.*651G>A | NP_001136242.1:n.*651G>A | |
| NM_001142771.2:c.4498-1699G>A | NP_001136243.1:n.4498-1699G>A | |
| NM_001142772.2:c.4483-1699G>A | NP_001136244.1:n.4483-1699G>A | |
| NM_001354411.2:c.5215G>A | NP_001341340.1:p.Gly1739Ser | |
| NM_001354420.2:c.4477-1699G>A | NP_001341349.1:n.4477-1699G>A | |
| NM_001354429.2:c.4606-1699G>A | NP_001341358.1:n.4606-1699G>A | |
| NM_001384140.1:c.4672-1699G>A MANE Select | NP_001371069.1:n.4672-1699G>A |