Linked Data
ClinVar Variation Id:
207555
dbSNP Id:
rs202190396
ExAC:
11:6636444 C / T
gnomAD v2:
11-6636444-C-T
gnomAD v3:
11-6615213-C-T
gnomAD v4:
11-6615213-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615213C>T , CM000673.2:g.6615213C>T | GRCh38 |
| NC_000011.9:g.6636444C>T , CM000673.1:g.6636444C>T | GRCh37 |
| NC_000011.8:g.6593020C>T | NCBI36 |
| NG_008653.1:g.9249G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1269G>A | ENSP00000507321.1:p.Val423= | |
| ENST00000299427.12:c.1383G>A MANE Select | ENSP00000299427.6:p.Val461= | |
| ENST00000524611.2:n.243G>A | ||
| ENST00000524924.2:n.503G>A | ||
| ENST00000533371.6:c.654G>A | ENSP00000437066.1:p.Val218= | |
| ENST00000642892.1:c.654G>A | ENSP00000494165.1:p.Val218= | |
| ENST00000643342.1:c.456G>A | ||
| ENST00000643439.1:c.*1123G>A | ENSP00000495849.1:n.*1123G>A | |
| ENST00000643479.1:n.1569G>A | ||
| ENST00000643516.1:c.892G>A | ||
| ENST00000644218.1:c.1194G>A | ENSP00000493574.1:p.Val398= | |
| ENST00000644683.1:c.*836G>A | ENSP00000494085.1:n.*836G>A | |
| ENST00000644810.1:c.1104G>A | ENSP00000495895.1:p.Val368= | |
| ENST00000644831.1:n.1559G>A | ||
| ENST00000644933.1:c.*249G>A | ENSP00000496133.1:n.*249G>A | |
| ENST00000645285.1:c.*249G>A | ENSP00000495058.1:n.*249G>A | |
| ENST00000645331.1:n.2588G>A | ||
| ENST00000645620.1:c.654G>A | ENSP00000493657.1:p.Val218= | |
| ENST00000646691.1:n.1270G>A | ||
| ENST00000646777.1:n.1716G>A | ||
| ENST00000647016.1:n.1863G>A | ||
| ENST00000647152.1:c.654G>A | ENSP00000495893.1:p.Val218= | |
| ENST00000647209.1:c.*1252G>A | ENSP00000495558.1:n.*1252G>A | |
| ENST00000647346.1:n.2403G>A | ||
| ENST00000299427.10:c.1383G>A | ENSP00000299427.6:p.Val461= | |
| ENST00000524611.1:n.261G>A | ||
| ENST00000533371.5:c.654G>A | ENSP00000437066.1:p.Val218= | |
| ENST00000611494.4:c.1383G>A | ENSP00000484546.1:p.Val461= | |
| NM_000391.3:c.1383G>A | NP_000382.3:p.Val461= | |
| NM_000391.4:c.1383G>A MANE Select | NP_000382.3:p.Val461= |