Linked Data
ClinVar Variation Id:
2188473
ClinVar RCV Id:
RCV002636548
dbSNP Id:
rs567836947
ExAC:
6:157522274 G / A
gnomAD v2:
6-157522274-G-A
gnomAD v3:
6-157201140-G-A
gnomAD v4:
6-157201140-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201140G>A , CM000668.2:g.157201140G>A | GRCh38 |
| NC_000006.11:g.157522274G>A , CM000668.1:g.157522274G>A | GRCh37 |
| NC_000006.10:g.157563966G>A | NCBI36 |
| NG_032093.1:g.428211G>A | |
| NG_032093.2:g.428211G>A | |
| NG_066624.1:g.430115G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4756G>A | ENSP00000055163.8:p.Val1586Ile | |
| ENST00000414678.8:c.4825G>A | ENSP00000412835.3:p.Val1609Ile | |
| ENST00000637015.2:c.5044G>A | ENSP00000489729.2:p.Val1682Ile | |
| ENST00000346085.10:c.4795G>A | ENSP00000344546.5:p.Val1599Ile | |
| ENST00000350026.10:c.4507G>A | ENSP00000055163.7:p.Val1503Ile | |
| ENST00000414678.7:c.3073G>A | ENSP00000412835.2:p.Val1025Ile | |
| ENST00000635849.1:c.2236G>A | ENSP00000490948.1:p.Val746Ile | |
| ENST00000635957.1:c.1867G>A | ENSP00000490385.1:p.Val623Ile | |
| ENST00000636227.1:n.3378G>A | ||
| ENST00000636254.1:n.835G>A | ||
| ENST00000636930.2:c.4915G>A MANE Select | ENSP00000490491.2:p.Val1639Ile | |
| ENST00000636940.1:n.2912G>A | ||
| ENST00000637015.1:c.2283G>A | ||
| ENST00000637568.1:c.2197G>A | ||
| ENST00000637741.1:n.1581G>A | ||
| ENST00000637810.1:c.2257G>A | ENSP00000489636.1:p.Val753Ile | |
| ENST00000637904.1:c.2416G>A | ENSP00000490550.1:p.Val806Ile | |
| ENST00000647938.1:c.4546G>A | ENSP00000498155.1:p.Val1516Ile | |
| ENST00000346085.9:c.4546G>A | ENSP00000344546.4:p.Val1516Ile | |
| ENST00000350026.9:c.4507G>A | ENSP00000055163.7:p.Val1503Ile | |
| ENST00000414678.6:c.3073G>A | ENSP00000412835.2:p.Val1025Ile | |
| NM_017519.2:c.4507G>A | NP_059989.2:p.Val1503Ile | |
| NM_020732.3:c.4546G>A | NP_065783.3:p.Val1516Ile | |
| XM_005267069.3:c.4666G>A | XP_005267126.2:p.Val1556Ile | |
| XM_011535984.1:c.3745G>A | XP_011534286.1:p.Val1249Ile | |
| XM_011535985.1:c.3565G>A | XP_011534287.1:p.Val1189Ile | |
| XM_011535986.1:c.3325G>A | XP_011534288.1:p.Val1109Ile | |
| XM_011535987.1:c.2944G>A | XP_011534289.1:p.Val982Ile | |
| XM_011535988.1:c.1807G>A | XP_011534290.1:p.Val603Ile | |
| NM_001346813.1:c.4666G>A | NP_001333742.1:p.Val1556Ile | |
| NM_001363725.1:c.2416G>A | NP_001350654.1:p.Val806Ile | |
| XM_011535984.2:c.4876G>A | XP_011534286.2:p.Val1626Ile | |
| XM_011535988.3:c.1807G>A | XP_011534290.1:p.Val603Ile | |
| XM_017011103.2:c.4777G>A | XP_016866592.1:p.Val1593Ile | |
| XM_017011104.1:c.4747G>A | XP_016866593.1:p.Val1583Ile | |
| XM_017011105.2:c.4717G>A | XP_016866594.1:p.Val1573Ile | |
| XM_017011106.2:c.4588G>A | XP_016866595.1:p.Val1530Ile | |
| XM_017011107.2:c.4567G>A | XP_016866596.1:p.Val1523Ile | |
| XR_002956289.1:n.4862G>A | ||
| NM_001363725.2:c.2416G>A | NP_001350654.1:p.Val806Ile | |
| NM_001371656.1:c.4795G>A | NP_001358585.1:p.Val1599Ile | |
| NM_001374820.1:c.4795G>A | NP_001361749.1:p.Val1599Ile | |
| NM_001374828.1:c.4915G>A MANE Select | NP_001361757.1:p.Val1639Ile | |
| NM_017519.3:c.4756G>A | NP_059989.3:p.Val1586Ile |