Linked Data
ClinVar Variation Id:
448455
dbSNP Id:
rs369908571
ExAC:
2:32339856 G / A
gnomAD v2:
2-32339856-G-A
gnomAD v3:
2-32114787-G-A
gnomAD v4:
2-32114787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32114787G>A , CM000664.2:g.32114787G>A | GRCh38 |
| NC_000002.11:g.32339856G>A , CM000664.1:g.32339856G>A | GRCh37 |
| NC_000002.10:g.32193360G>A | NCBI36 |
| NG_008730.1:g.56177G>A , LRG_714:g.56177G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*492G>A | ENSP00000515816.1:n.*492G>A | |
| ENST00000315285.9:c.832G>A MANE Select | ENSP00000320885.3:p.Val278Met | |
| ENST00000621856.2:c.829G>A | ENSP00000482496.2:p.Val277Met | |
| ENST00000642281.1:c.716G>A | ||
| ENST00000642455.1:c.733G>A | ENSP00000493827.1:p.Val245Met | |
| ENST00000642751.1:c.606G>A | ||
| ENST00000642999.1:c.574G>A | ENSP00000496589.1:p.Val192Met | |
| ENST00000643334.1:c.412G>A | ||
| ENST00000644408.1:c.708G>A | ||
| ENST00000644954.1:c.478G>A | ENSP00000494312.1:p.Val160Met | |
| ENST00000645671.1:c.282G>A | ||
| ENST00000645730.1:c.179G>A | ||
| ENST00000646082.1:c.517-915G>A | ||
| ENST00000646571.1:c.736G>A | ENSP00000495015.1:p.Val246Met | |
| ENST00000647007.1:n.524G>A | ||
| ENST00000647133.1:c.407G>A | ||
| ENST00000315285.7:c.832G>A | ENSP00000320885.3:p.Val278Met | |
| ENST00000345662.5:c.736G>A | ENSP00000340817.1:p.Val246Met | |
| ENST00000615843.4:c.832G>A | ENSP00000480893.1:p.Val278Met | |
| ENST00000621856.1:c.574G>A | ENSP00000482496.1:p.Val192Met | |
| NM_014946.3:c.832G>A , LRG_714t1:c.832G>A | NP_055761.2:p.Val278Met | |
| NM_199436.1:c.736G>A | NP_955468.1:p.Val246Met | |
| XM_005264516.3:c.829G>A | XP_005264573.1:p.Val277Met | |
| XM_011533067.1:c.832G>A | XP_011531369.1:p.Val278Met | |
| NM_001363823.1:c.829G>A | NP_001350752.1:p.Val277Met | |
| NM_001363875.1:c.733G>A | NP_001350804.1:p.Val245Met | |
| XM_005264516.5:c.829G>A | XP_005264573.1:p.Val277Met | |
| XM_011533067.2:c.832G>A | XP_011531369.1:p.Val278Met | |
| XM_017004778.2:c.736G>A | XP_016860267.1:p.Val246Met | |
| NM_001363823.2:c.829G>A | NP_001350752.1:p.Val277Met | |
| NM_001363875.2:c.733G>A | NP_001350804.1:p.Val245Met | |
| NM_001377959.1:c.736G>A | NP_001364888.1:p.Val246Met | |
| NM_014946.4:c.832G>A MANE Select | NP_055761.2:p.Val278Met | |
| NM_199436.2:c.736G>A | NP_955468.1:p.Val246Met |