Linked Data
ClinVar Variation Id:
2154688
dbSNP Id:
rs1344527425
gnomAD v3:
11-6617016-C-T
gnomAD v4:
11-6617016-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617016C>T , CM000673.2:g.6617016C>T | GRCh38 |
| NC_000011.9:g.6638247C>T , CM000673.1:g.6638247C>T | GRCh37 |
| NC_000011.8:g.6594823C>T | NCBI36 |
| NG_008653.1:g.7446G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.532G>A | ENSP00000507321.1:p.Val178Met | |
| ENST00000299427.12:c.646G>A MANE Select | ENSP00000299427.6:p.Val216Met | |
| ENST00000436873.7:c.312+285G>A | ||
| ENST00000524788.2:n.1805G>A | ||
| ENST00000524903.2:n.1921G>A | ||
| ENST00000528807.2:n.302G>A | ||
| ENST00000530040.2:n.479+343G>A | ||
| ENST00000533371.6:c.-84G>A | ENSP00000437066.1:n.-84G>A | |
| ENST00000534644.6:n.594G>A | ||
| ENST00000642892.1:c.-84G>A | ENSP00000494165.1:n.-84G>A | |
| ENST00000643439.1:c.*386G>A | ENSP00000495849.1:n.*386G>A | |
| ENST00000643479.1:n.675G>A | ||
| ENST00000643516.1:c.395+285G>A | ||
| ENST00000644151.1:n.2085G>A | ||
| ENST00000644218.1:c.646G>A | ENSP00000493574.1:p.Val216Met | |
| ENST00000644683.1:c.*99G>A | ENSP00000494085.1:n.*99G>A | |
| ENST00000644810.1:c.367G>A | ENSP00000495895.1:p.Val123Met | |
| ENST00000644831.1:n.822G>A | ||
| ENST00000644933.1:c.-84G>A | ENSP00000496133.1:n.-84G>A | |
| ENST00000645020.1:n.1821G>A | ||
| ENST00000645285.1:c.-84G>A | ENSP00000495058.1:n.-84G>A | |
| ENST00000645331.1:n.1012G>A | ||
| ENST00000645620.1:c.-84G>A | ENSP00000493657.1:n.-84G>A | |
| ENST00000646777.1:n.822G>A | ||
| ENST00000647016.1:n.1126G>A | ||
| ENST00000647152.1:c.-84G>A | ENSP00000495893.1:n.-84G>A | |
| ENST00000647209.1:c.*515G>A | ENSP00000495558.1:n.*515G>A | |
| ENST00000647346.1:n.1666G>A | ||
| ENST00000299427.10:c.646G>A | ENSP00000299427.6:p.Val216Met | |
| ENST00000428886.6:n.815G>A | ||
| ENST00000436873.6:c.450+343G>A | ENSP00000398136.2:n.450+343G>A | |
| ENST00000524788.1:n.346G>A | ||
| ENST00000528571.5:c.*386G>A | ENSP00000434647.1:n.*386G>A | |
| ENST00000528807.1:n.196G>A | ||
| ENST00000533371.5:c.-84G>A | ENSP00000437066.1:n.-84G>A | |
| ENST00000534644.5:n.631G>A | ||
| ENST00000611494.4:c.646G>A | ENSP00000484546.1:p.Val216Met | |
| NM_000391.3:c.646G>A | NP_000382.3:p.Val216Met | |
| NM_000391.4:c.646G>A MANE Select | NP_000382.3:p.Val216Met |