Linked Data
ClinVar Variation Id:
335320
dbSNP Id:
rs375162898
ExAC:
2:242707271 G / A
gnomAD v2:
2-242707271-G-A
gnomAD v3:
2-241767856-G-A
gnomAD v4:
2-241767856-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767856G>A , CM000664.2:g.241767856G>A | GRCh38 |
| NC_000002.11:g.242707271G>A , CM000664.1:g.242707271G>A | GRCh37 |
| NC_000002.10:g.242355944G>A | NCBI36 |
| NG_012012.1:g.38242G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321264.9:c.1453G>A MANE Select | ENSP00000315351.4:p.Val485Ile | |
| ENST00000321264.8:c.1453G>A | ENSP00000315351.4:p.Val485Ile | |
| ENST00000400769.6:c.*203G>A | ENSP00000383580.2:n.*203G>A | |
| ENST00000403782.5:c.1051G>A | ENSP00000384723.1:p.Val351Ile | |
| ENST00000436747.5:c.*2689G>A | ENSP00000400212.1:n.*2689G>A | |
| ENST00000445308.1:c.849G>A | ||
| ENST00000468064.5:n.1343G>A | ||
| ENST00000470343.5:n.934G>A | ||
| ENST00000473126.1:n.652G>A | ||
| ENST00000486953.5:n.1277G>A | ||
| ENST00000610344.1:c.*297G>A | ENSP00000481906.1:n.*297G>A | |
| NM_001287249.1:c.1051G>A | NP_001274178.1:p.Val351Ile | |
| NM_152783.4:c.1453G>A | NP_689996.4:p.Val485Ile | |
| NR_109778.1:n.1375G>A | ||
| XM_011511734.1:c.1573G>A | XP_011510036.1:p.Val525Ile | |
| XM_011511735.1:c.1531G>A | XP_011510037.1:p.Val511Ile | |
| XM_011511736.1:c.1495G>A | XP_011510038.1:p.Val499Ile | |
| XM_011511754.1:c.1012G>A | XP_011510056.1:p.Val338Ile | |
| XM_011511755.1:c.1003G>A | XP_011510057.1:p.Val335Ile | |
| XM_011511756.1:c.1000G>A | XP_011510058.1:p.Val334Ile | |
| XR_923004.1:n.2085G>A | ||
| XR_923007.1:n.1795G>A | ||
| XR_923011.1:n.1896G>A | ||
| NM_001352824.1:c.892G>A | NP_001339753.1:p.Val298Ile | |
| XM_011511734.2:c.1573G>A | XP_011510036.1:p.Val525Ile | |
| XM_011511735.2:c.1531G>A | XP_011510037.1:p.Val511Ile | |
| XM_011511736.2:c.1495G>A | XP_011510038.1:p.Val499Ile | |
| XM_011511756.2:c.1000G>A | XP_011510058.1:p.Val334Ile | |
| XM_024453102.1:c.1345G>A | XP_024308870.1:p.Val449Ile | |
| XR_001738918.2:n.1827G>A | ||
| XR_001738919.2:n.1761G>A | ||
| XR_923004.3:n.2084G>A | ||
| XR_923007.3:n.1794G>A | ||
| XR_923011.3:n.1895G>A | ||
| NM_152783.5:c.1453G>A MANE Select | NP_689996.4:p.Val485Ile | |
| NM_001287249.2:c.1051G>A | NP_001274178.1:p.Val351Ile | |
| NM_001352824.2:c.892G>A | NP_001339753.1:p.Val298Ile | |
| NR_109778.2:n.1324G>A |