Linked Data
ClinVar Variation Id:
2649
dbSNP Id:
rs755445790
ExAC:
11:6637744 T / C
gnomAD v2:
11-6637744-T-C
gnomAD v3:
11-6616513-T-C
gnomAD v4:
11-6616513-T-C
PubMed:
PMID:17959406
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616513T>C , CM000673.2:g.6616513T>C | GRCh38 |
| NC_000011.9:g.6637744T>C , CM000673.1:g.6637744T>C | GRCh37 |
| NC_000011.8:g.6594320T>C | NCBI36 |
| NG_008653.1:g.7949A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682424.1:c.773-10A>G | ENSP00000507321.1:n.773-10A>G | |
| ENST00000299427.12:c.887-10A>G MANE Select | ENSP00000299427.6:n.887-10A>G | |
| ENST00000436873.7:c.313-439A>G | ||
| ENST00000524903.2:n.2309A>G | ||
| ENST00000530040.2:n.480-10A>G | ||
| ENST00000533371.6:c.158-10A>G | ENSP00000437066.1:n.158-10A>G | |
| ENST00000642892.1:c.158-10A>G | ENSP00000494165.1:n.158-10A>G | |
| ENST00000643439.1:c.*627-10A>G | ENSP00000495849.1:n.*627-10A>G | |
| ENST00000643479.1:n.1063A>G | ||
| ENST00000643516.1:c.396-10A>G | ||
| ENST00000644218.1:c.886+148A>G | ENSP00000493574.1:n.886+148A>G | |
| ENST00000644683.1:c.*340-10A>G | ENSP00000494085.1:n.*340-10A>G | |
| ENST00000644810.1:c.608-10A>G | ENSP00000495895.1:n.608-10A>G | |
| ENST00000644831.1:n.1063-10A>G | ||
| ENST00000644933.1:c.158-10A>G | ENSP00000496133.1:n.158-10A>G | |
| ENST00000645285.1:c.157+148A>G | ENSP00000495058.1:n.157+148A>G | |
| ENST00000645331.1:n.1400A>G | ||
| ENST00000645620.1:c.158-10A>G | ENSP00000493657.1:n.158-10A>G | |
| ENST00000646777.1:n.1210A>G | ||
| ENST00000647016.1:n.1367-10A>G | ||
| ENST00000647152.1:c.158-10A>G | ENSP00000495893.1:n.158-10A>G | |
| ENST00000647209.1:c.*756-10A>G | ENSP00000495558.1:n.*756-10A>G | |
| ENST00000647346.1:n.1907-10A>G | ||
| ENST00000299427.10:c.887-10A>G | ENSP00000299427.6:n.887-10A>G | |
| ENST00000436873.6:c.451-10A>G | ENSP00000398136.2:n.451-10A>G | |
| ENST00000528807.1:n.584A>G | ||
| ENST00000533371.5:c.158-10A>G | ENSP00000437066.1:n.158-10A>G | |
| ENST00000611494.4:c.887-10A>G | ENSP00000484546.1:n.887-10A>G | |
| NM_000391.3:c.887-10A>G | NP_000382.3:n.887-10A>G | |
| NM_000391.4:c.887-10A>G MANE Select | NP_000382.3:n.887-10A>G |