Linked Data
ClinVar Variation Id:
554819
dbSNP Id:
rs778708979
ExAC:
5:118792053 G / A
gnomAD v3:
5-119456358-G-A
gnomAD v4:
5-119456358-G-A
COSMIC:
COSM5638273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119456358G>A , CM000667.2:g.119456358G>A | GRCh38 |
| NC_000005.9:g.118792053G>A , CM000667.1:g.118792053G>A | GRCh37 |
| NC_000005.8:g.118819952G>A | NCBI36 |
| NG_008182.1:g.8906G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.102G>A | ENSP00000426272.2:p.Ala34= | |
| ENST00000512841.6:n.143G>A | ||
| ENST00000518349.6:c.102G>A | ENSP00000507185.1:p.Ala34= | |
| ENST00000682445.1:c.102G>A | ENSP00000508061.1:p.Ala34= | |
| ENST00000682531.1:n.138G>A | ||
| ENST00000682626.1:c.112G>A | ENSP00000507857.1:p.Val38Ile | |
| ENST00000682996.1:c.102G>A | ENSP00000507792.1:p.Ala34= | |
| ENST00000683265.1:n.130G>A | ||
| ENST00000683371.1:c.102G>A | ENSP00000508376.1:p.Ala34= | |
| ENST00000683390.1:n.150G>A | ||
| ENST00000683936.1:c.102G>A | ENSP00000507721.1:p.Ala34= | |
| ENST00000683974.1:n.184G>A | ||
| ENST00000684160.1:c.112G>A | ENSP00000507821.1:p.Val38Ile | |
| ENST00000684214.1:c.102G>A | ENSP00000508071.1:p.Ala34= | |
| ENST00000414835.7:c.112G>A | ENSP00000411960.3:p.Val38Ile | |
| ENST00000510025.7:c.102G>A MANE Select | ENSP00000424940.3:p.Ala34= | |
| ENST00000643250.1:c.112G>A | ENSP00000494737.1:p.Val38Ile | |
| ENST00000644146.1:c.102G>A | ENSP00000494808.1:p.Ala34= | |
| ENST00000645832.1:c.102G>A | ENSP00000494316.1:p.Ala34= | |
| ENST00000646058.1:c.102G>A | ENSP00000493579.1:p.Ala34= | |
| ENST00000646355.1:c.112G>A | ENSP00000493801.1:p.Val38Ile | |
| ENST00000646554.1:c.112G>A | ENSP00000494542.1:p.Val38Ile | |
| ENST00000646590.1:c.102G>A | ENSP00000494892.1:p.Ala34= | |
| ENST00000647335.1:c.112G>A | ENSP00000495180.1:p.Val38Ile | |
| ENST00000647342.1:c.112G>A | ENSP00000494992.1:p.Val38Ile | |
| ENST00000256216.10:c.102G>A | ENSP00000256216.6:p.Ala34= | |
| ENST00000414835.6:c.-310G>A | ENSP00000411960.2:n.-310G>A | |
| ENST00000442060.7:c.102G>A | ENSP00000390208.3:p.Ala34= | |
| ENST00000503168.5:n.91G>A | ||
| ENST00000504811.5:c.112G>A | ENSP00000420914.1:p.Val38Ile | |
| ENST00000507695.1:n.46G>A | ||
| ENST00000508750.1:n.100G>A | ||
| ENST00000510025.5:c.-36G>A | ENSP00000424940.1:n.-36G>A | |
| ENST00000511186.5:n.205G>A | ||
| ENST00000512841.5:n.150G>A | ||
| ENST00000515235.6:n.162G>A | ||
| ENST00000515320.5:c.58+3725G>A | ENSP00000424613.1:n.58+3725G>A | |
| ENST00000519184.5:n.113G>A | ||
| NM_000414.3:c.102G>A | NP_000405.1:p.Ala34= | |
| NM_001199291.2:c.112G>A | NP_001186220.1:p.Val38Ile | |
| NM_001199292.1:c.58+3725G>A | NP_001186221.1:n.58+3725G>A | |
| NM_001292027.1:c.-36G>A | NP_001278956.1:n.-36G>A | |
| NM_001292028.1:c.-310G>A | NP_001278957.1:n.-310G>A | |
| NM_000414.4:c.102G>A MANE Select | NP_000405.1:p.Ala34= | |
| NM_001199291.3:c.112G>A | NP_001186220.1:p.Val38Ile | |
| NM_001199292.2:c.58+3725G>A | NP_001186221.1:n.58+3725G>A | |
| NM_001292027.2:c.-36G>A | NP_001278956.1:n.-36G>A | |
| NM_001292028.2:c.-310G>A | NP_001278957.1:n.-310G>A | |
| NM_001374497.1:c.102G>A | NP_001361426.1:p.Ala34= | |
| NM_001374498.1:c.102G>A | NP_001361427.1:p.Ala34= | |
| NM_001374499.1:c.-244G>A | NP_001361428.1:n.-244G>A | |
| NM_001374500.1:c.-437G>A | NP_001361429.1:n.-437G>A | |
| NM_001374501.1:c.-310G>A | NP_001361430.1:n.-310G>A | |
| NM_001374502.1:c.-315G>A | NP_001361431.1:n.-315G>A | |
| NM_001374503.1:c.-380G>A | NP_001361432.1:n.-380G>A | |
| NR_164653.1:n.181G>A | ||
| NR_164654.1:n.369G>A |