Linked Data
dbSNP Id:
rs202073338
ExAC:
11:1774810 C / G
gnomAD v2:
11-1774810-C-G
gnomAD v4:
11-1753580-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753580C>G , CM000673.2:g.1753580C>G | GRCh38 |
| NC_000011.9:g.1774810C>G , CM000673.1:g.1774810C>G | GRCh37 |
| NC_000011.8:g.1731386C>G | NCBI36 |
| NG_008655.1:g.15413G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1162G>C MANE Select | ENSP00000236671.2:p.Val388Leu | |
| ENST00000367196.4:c.1057G>C | ENSP00000356164.4:p.Val353Leu | |
| ENST00000427721.3:c.587G>C | ||
| ENST00000429746.2:c.1057G>C | ENSP00000402586.2:p.Val353Leu | |
| ENST00000433655.6:c.*328G>C | ENSP00000404902.1:n.*328G>C | |
| ENST00000438213.6:c.1279G>C | ENSP00000415036.2:p.Val427Leu | |
| ENST00000636397.1:c.1071+223G>C | ENSP00000489910.1:n.1071+223G>C | |
| ENST00000636571.1:c.1141G>C | ENSP00000490770.1:p.Val381Leu | |
| ENST00000636579.1:c.72+223G>C | ENSP00000490489.1:n.72+223G>C | |
| ENST00000636615.1:c.1071+223G>C | ENSP00000490014.1:n.1071+223G>C | |
| ENST00000636843.1:c.1156G>C | ENSP00000490897.1:p.Val386Leu | |
| ENST00000637158.1:n.760G>C | ||
| ENST00000637381.2:n.3590G>C | ||
| ENST00000637387.1:c.1141G>C | ENSP00000490598.1:p.Val381Leu | |
| ENST00000637815.2:c.1144G>C | ENSP00000490344.1:p.Val382Leu | |
| ENST00000637915.1:c.1153G>C | ENSP00000490471.1:p.Val385Leu | |
| ENST00000637937.1:n.470G>C | ||
| ENST00000678991.1:c.*1023G>C | ENSP00000503019.1:n.*1023G>C | |
| ENST00000236671.6:c.1162G>C | ENSP00000236671.2:p.Val388Leu | |
| ENST00000427721.2:c.471+223G>C | ENSP00000415840.2:n.471+223G>C | |
| ENST00000429746.1:c.493G>C | ENSP00000402586.1:p.Val165Leu | |
| ENST00000433655.5:c.*328G>C | ENSP00000404902.1:n.*328G>C | |
| NM_001909.4:c.1162G>C | NP_001900.1:p.Val388Leu | |
| NM_001909.5:c.1162G>C MANE Select | NP_001900.1:p.Val388Leu |