Linked Data
ClinVar Variation Id:
2647
dbSNP Id:
rs119455957
gnomAD v2:
11-6637927-C-A
gnomAD v3:
11-6616696-C-A
gnomAD v4:
11-6616696-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616696C>A , CM000673.2:g.6616696C>A | GRCh38 |
| NC_000011.9:g.6637927C>A , CM000673.1:g.6637927C>A | GRCh37 |
| NC_000011.8:g.6594503C>A | NCBI36 |
| NG_008653.1:g.7766G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.737G>T | ENSP00000507321.1:p.Gly246Val | |
| ENST00000299427.12:c.851G>T MANE Select | ENSP00000299427.6:p.Gly284Val | |
| ENST00000436873.7:c.312+605G>T | ||
| ENST00000524788.2:n.2010G>T | ||
| ENST00000524903.2:n.2126G>T | ||
| ENST00000528807.2:n.507G>T | ||
| ENST00000530040.2:n.480-193G>T | ||
| ENST00000533371.6:c.122G>T | ENSP00000437066.1:p.Gly41Val | |
| ENST00000642892.1:c.122G>T | ENSP00000494165.1:p.Gly41Val | |
| ENST00000643439.1:c.*591G>T | ENSP00000495849.1:n.*591G>T | |
| ENST00000643479.1:n.880G>T | ||
| ENST00000643516.1:c.396-193G>T | ||
| ENST00000644151.1:n.2290G>T | ||
| ENST00000644218.1:c.851G>T | ENSP00000493574.1:p.Gly284Val | |
| ENST00000644683.1:c.*304G>T | ENSP00000494085.1:n.*304G>T | |
| ENST00000644810.1:c.572G>T | ENSP00000495895.1:p.Gly191Val | |
| ENST00000644831.1:n.1027G>T | ||
| ENST00000644933.1:c.122G>T | ENSP00000496133.1:p.Gly41Val | |
| ENST00000645020.1:n.2141G>T | ||
| ENST00000645285.1:c.122G>T | ENSP00000495058.1:p.Gly41Val | |
| ENST00000645331.1:n.1217G>T | ||
| ENST00000645620.1:c.122G>T | ENSP00000493657.1:p.Gly41Val | |
| ENST00000646777.1:n.1027G>T | ||
| ENST00000647016.1:n.1331G>T | ||
| ENST00000647152.1:c.122G>T | ENSP00000495893.1:p.Gly41Val | |
| ENST00000647209.1:c.*720G>T | ENSP00000495558.1:n.*720G>T | |
| ENST00000647346.1:n.1871G>T | ||
| ENST00000299427.10:c.851G>T | ENSP00000299427.6:p.Gly284Val | |
| ENST00000436873.6:c.451-193G>T | ENSP00000398136.2:n.451-193G>T | |
| ENST00000524788.1:n.551G>T | ||
| ENST00000528807.1:n.401G>T | ||
| ENST00000533371.5:c.122G>T | ENSP00000437066.1:p.Gly41Val | |
| ENST00000611494.4:c.851G>T | ENSP00000484546.1:p.Gly284Val | |
| NM_000391.3:c.851G>T | NP_000382.3:p.Gly284Val | |
| NM_000391.4:c.851G>T MANE Select | NP_000382.3:p.Gly284Val |