Linked Data
ClinVar Variation Id:
1523266
ClinVar RCV Id:
RCV002038739
dbSNP Id:
rs1173360765
gnomAD v2:
5-125885636-T-C
gnomAD v4:
5-126549944-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126549944T>C , CM000667.2:g.126549944T>C | GRCh38 |
| NC_000005.9:g.125885636T>C , CM000667.1:g.125885636T>C | GRCh37 |
| NC_000005.8:g.125913535T>C | NCBI36 |
| NG_008600.2:g.50447A>G | |
| NG_008600.3:g.50447A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1474A>G MANE Select | ENSP00000387123.3:p.Ile492Val | |
| ENST00000458249.6:c.*1383A>G | ENSP00000403929.1:n.*1383A>G | |
| ENST00000485852.7:n.221A>G | ||
| ENST00000497231.7:n.1901A>G | ||
| ENST00000635851.1:c.1472A>G | ||
| ENST00000636062.1:n.1369A>G | ||
| ENST00000636225.1:c.*1418A>G | ENSP00000490797.1:n.*1418A>G | |
| ENST00000636286.1:n.1239A>G | ||
| ENST00000636482.1:n.1008A>G | ||
| ENST00000636743.1:c.1354A>G | ENSP00000489725.1:p.Ile452Val | |
| ENST00000636808.1:c.*1283A>G | ENSP00000490833.1:n.*1283A>G | |
| ENST00000636872.1:c.1634A>G | ENSP00000490919.1:n.1634A>G | |
| ENST00000636879.1:c.1519A>G | ENSP00000490811.1:p.Ile507Val | |
| ENST00000636886.1:c.1273A>G | ENSP00000490371.1:p.Ile425Val | |
| ENST00000637206.1:c.1294A>G | ENSP00000489895.1:p.Ile432Val | |
| ENST00000637272.1:c.1465A>G | ENSP00000489686.1:p.Ile489Val | |
| ENST00000637292.1:c.930A>G | ||
| ENST00000637782.1:c.1474A>G | ENSP00000490024.1:p.Ile492Val | |
| ENST00000638008.1:c.*1318A>G | ENSP00000490400.1:n.*1318A>G | |
| ENST00000638010.1:n.1420A>G | ||
| ENST00000409134.7:c.1474A>G | ENSP00000387123.3:p.Ile492Val | |
| ENST00000447989.6:c.1363A>G | ENSP00000414132.2:p.Ile455Val | |
| ENST00000476328.1:n.432A>G | ||
| ENST00000485852.6:n.221A>G | ||
| ENST00000497231.6:n.1684A>G | ||
| ENST00000553117.5:c.1282A>G | ENSP00000448593.1:p.Ile428Val | |
| NM_001182.4:c.1474A>G | NP_001173.2:p.Ile492Val | |
| NM_001201377.1:c.1390A>G | NP_001188306.1:p.Ile464Val | |
| NM_001202404.1:c.1363A>G | NP_001189333.1:p.Ile455Val | |
| XM_011543417.1:c.1069A>G | XP_011541719.1:p.Ile357Val | |
| XM_011543417.2:c.1069A>G | XP_011541719.1:p.Ile357Val | |
| NM_001182.5:c.1474A>G MANE Select | NP_001173.2:p.Ile492Val | |
| NM_001201377.2:c.1390A>G | NP_001188306.1:p.Ile464Val | |
| NM_001202404.2:c.1282A>G | NP_001189333.2:p.Ile428Val |