Linked Data
ClinVar Variation Id:
68749
dbSNP Id:
rs121908207
ExAC:
11:6637949 C / T
gnomAD v2:
11-6637949-C-T
gnomAD v3:
11-6616718-C-T
gnomAD v4:
11-6616718-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616718C>T , CM000673.2:g.6616718C>T | GRCh38 |
| NC_000011.9:g.6637949C>T , CM000673.1:g.6637949C>T | GRCh37 |
| NC_000011.8:g.6594525C>T | NCBI36 |
| NG_008653.1:g.7744G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.715G>A | ENSP00000507321.1:p.Val239Met | |
| ENST00000299427.12:c.829G>A MANE Select | ENSP00000299427.6:p.Val277Met | |
| ENST00000436873.7:c.312+583G>A | ||
| ENST00000524788.2:n.1988G>A | ||
| ENST00000524903.2:n.2104G>A | ||
| ENST00000528807.2:n.485G>A | ||
| ENST00000530040.2:n.480-215G>A | ||
| ENST00000533371.6:c.100G>A | ENSP00000437066.1:p.Val34Met | |
| ENST00000642892.1:c.100G>A | ENSP00000494165.1:p.Val34Met | |
| ENST00000643439.1:c.*569G>A | ENSP00000495849.1:n.*569G>A | |
| ENST00000643479.1:n.858G>A | ||
| ENST00000643516.1:c.396-215G>A | ||
| ENST00000644151.1:n.2268G>A | ||
| ENST00000644218.1:c.829G>A | ENSP00000493574.1:p.Val277Met | |
| ENST00000644683.1:c.*282G>A | ENSP00000494085.1:n.*282G>A | |
| ENST00000644810.1:c.550G>A | ENSP00000495895.1:p.Val184Met | |
| ENST00000644831.1:n.1005G>A | ||
| ENST00000644933.1:c.100G>A | ENSP00000496133.1:p.Val34Met | |
| ENST00000645020.1:n.2119G>A | ||
| ENST00000645285.1:c.100G>A | ENSP00000495058.1:p.Val34Met | |
| ENST00000645331.1:n.1195G>A | ||
| ENST00000645620.1:c.100G>A | ENSP00000493657.1:p.Val34Met | |
| ENST00000646777.1:n.1005G>A | ||
| ENST00000647016.1:n.1309G>A | ||
| ENST00000647152.1:c.100G>A | ENSP00000495893.1:p.Val34Met | |
| ENST00000647209.1:c.*698G>A | ENSP00000495558.1:n.*698G>A | |
| ENST00000647346.1:n.1849G>A | ||
| ENST00000299427.10:c.829G>A | ENSP00000299427.6:p.Val277Met | |
| ENST00000436873.6:c.451-215G>A | ENSP00000398136.2:n.451-215G>A | |
| ENST00000524788.1:n.529G>A | ||
| ENST00000528807.1:n.379G>A | ||
| ENST00000533371.5:c.100G>A | ENSP00000437066.1:p.Val34Met | |
| ENST00000611494.4:c.829G>A | ENSP00000484546.1:p.Val277Met | |
| NM_000391.3:c.829G>A | NP_000382.3:p.Val277Met | |
| NM_000391.4:c.829G>A MANE Select | NP_000382.3:p.Val277Met |