Linked Data
ClinVar Variation Id:
1225378
ClinVar RCV Id:
RCV001610944
dbSNP Id:
rs750546113
ExAC:
11:6636420 T / C
gnomAD v2:
11-6636420-T-C
gnomAD v3:
11-6615189-T-C
gnomAD v4:
11-6615189-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615189T>C , CM000673.2:g.6615189T>C | GRCh38 |
| NC_000011.9:g.6636420T>C , CM000673.1:g.6636420T>C | GRCh37 |
| NC_000011.8:g.6592996T>C | NCBI36 |
| NG_008653.1:g.9273A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1293A>G | ENSP00000507321.1:p.Pro431= | |
| ENST00000299427.12:c.1407A>G MANE Select | ENSP00000299427.6:p.Pro469= | |
| ENST00000524611.2:n.267A>G | ||
| ENST00000524924.2:n.527A>G | ||
| ENST00000533371.6:c.678A>G | ENSP00000437066.1:p.Pro226= | |
| ENST00000642892.1:c.678A>G | ENSP00000494165.1:p.Pro226= | |
| ENST00000643342.1:c.480A>G | ||
| ENST00000643439.1:c.*1147A>G | ENSP00000495849.1:n.*1147A>G | |
| ENST00000643479.1:n.1593A>G | ||
| ENST00000643516.1:c.916A>G | ||
| ENST00000644218.1:c.1218A>G | ENSP00000493574.1:p.Pro406= | |
| ENST00000644683.1:c.*860A>G | ENSP00000494085.1:n.*860A>G | |
| ENST00000644810.1:c.1128A>G | ENSP00000495895.1:p.Pro376= | |
| ENST00000644831.1:n.1583A>G | ||
| ENST00000644933.1:c.*273A>G | ENSP00000496133.1:n.*273A>G | |
| ENST00000645285.1:c.*273A>G | ENSP00000495058.1:n.*273A>G | |
| ENST00000645331.1:n.2612A>G | ||
| ENST00000645620.1:c.678A>G | ENSP00000493657.1:p.Pro226= | |
| ENST00000646691.1:n.1294A>G | ||
| ENST00000646777.1:n.1740A>G | ||
| ENST00000647016.1:n.1887A>G | ||
| ENST00000647152.1:c.678A>G | ENSP00000495893.1:p.Pro226= | |
| ENST00000647209.1:c.*1276A>G | ENSP00000495558.1:n.*1276A>G | |
| ENST00000647346.1:n.2427A>G | ||
| ENST00000299427.10:c.1407A>G | ENSP00000299427.6:p.Pro469= | |
| ENST00000524611.1:n.285A>G | ||
| ENST00000533371.5:c.678A>G | ENSP00000437066.1:p.Pro226= | |
| ENST00000611494.4:c.1407A>G | ENSP00000484546.1:p.Pro469= | |
| NM_000391.3:c.1407A>G | NP_000382.3:p.Pro469= | |
| NM_000391.4:c.1407A>G MANE Select | NP_000382.3:p.Pro469= |