Linked Data
ClinVar Variation Id:
350473
dbSNP Id:
rs185522709
gnomAD v2:
5-118877824-T-G
gnomAD v3:
5-119542129-T-G
gnomAD v4:
5-119542129-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119542129T>G , CM000667.2:g.119542129T>G | GRCh38 |
| NC_000005.9:g.118877824T>G , CM000667.1:g.118877824T>G | GRCh37 |
| NC_000005.8:g.118905723T>G | NCBI36 |
| NG_008182.1:g.94677T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.*135T>G | ENSP00000426272.2:n.*135T>G | |
| ENST00000518349.6:c.*135T>G | ENSP00000507185.1:n.*135T>G | |
| ENST00000682445.1:c.*2227T>G | ENSP00000508061.1:n.*2227T>G | |
| ENST00000682531.1:n.4238T>G | ||
| ENST00000682626.1:c.*1852T>G | ENSP00000507857.1:n.*1852T>G | |
| ENST00000682996.1:c.*135T>G | ENSP00000507792.1:n.*135T>G | |
| ENST00000683265.1:n.4132T>G | ||
| ENST00000683335.1:n.3748T>G | ||
| ENST00000683371.1:c.*2476T>G | ENSP00000508376.1:n.*2476T>G | |
| ENST00000683372.1:n.4356T>G | ||
| ENST00000683390.1:n.9054T>G | ||
| ENST00000683476.1:n.1188T>G | ||
| ENST00000683549.1:n.3960T>G | ||
| ENST00000683936.1:c.*3924T>G | ENSP00000507721.1:n.*3924T>G | |
| ENST00000683974.1:n.4075T>G | ||
| ENST00000683996.1:c.*1556T>G | ENSP00000507060.1:n.*1556T>G | |
| ENST00000684131.1:n.3878T>G | ||
| ENST00000684160.1:c.*2036T>G | ENSP00000507821.1:n.*2036T>G | |
| ENST00000684214.1:c.*341T>G | ENSP00000508071.1:n.*341T>G | |
| ENST00000414835.7:c.*135T>G | ENSP00000411960.3:n.*135T>G | |
| ENST00000510025.7:c.*135T>G MANE Select | ENSP00000424940.3:n.*135T>G | |
| ENST00000643250.1:c.*2218T>G | ENSP00000494737.1:n.*2218T>G | |
| ENST00000643897.1:c.113+5579T>G | ||
| ENST00000644146.1:c.*3617T>G | ENSP00000494808.1:n.*3617T>G | |
| ENST00000645702.1:c.*1749T>G | ENSP00000496432.1:n.*1749T>G | |
| ENST00000645832.1:c.*2231T>G | ENSP00000494316.1:n.*2231T>G | |
| ENST00000646058.1:c.2121+5579T>G | ENSP00000493579.1:n.2121+5579T>G | |
| ENST00000646355.1:c.*2352T>G | ENSP00000493801.1:n.*2352T>G | |
| ENST00000646554.1:c.*2324T>G | ENSP00000494542.1:n.*2324T>G | |
| ENST00000647335.1:c.*2313T>G | ENSP00000495180.1:n.*2313T>G | |
| ENST00000647342.1:c.*2277T>G | ENSP00000494992.1:n.*2277T>G | |
| ENST00000256216.10:c.*135T>G | ENSP00000256216.6:n.*135T>G | |
| ENST00000414835.6:c.*135T>G | ENSP00000411960.2:n.*135T>G | |
| ENST00000442060.7:c.*901T>G | ENSP00000390208.3:n.*901T>G | |
| ENST00000503310.1:n.1006T>G | ||
| ENST00000504811.5:c.*135T>G | ENSP00000420914.1:n.*135T>G | |
| ENST00000509514.5:c.*135T>G | ENSP00000426272.1:n.*135T>G | |
| ENST00000509606.1:n.641T>G | ||
| ENST00000509951.5:n.534T>G | ||
| ENST00000510025.5:c.*135T>G | ENSP00000424940.1:n.*135T>G | |
| ENST00000513628.5:c.*135T>G | ENSP00000425993.1:n.*135T>G | |
| ENST00000515235.6:n.3874+5579T>G | ||
| ENST00000515320.5:c.*135T>G | ENSP00000424613.1:n.*135T>G | |
| NM_000414.3:c.*135T>G | NP_000405.1:n.*135T>G | |
| NM_001199291.2:c.*135T>G | NP_001186220.1:n.*135T>G | |
| NM_001199292.1:c.*135T>G | NP_001186221.1:n.*135T>G | |
| NM_001292027.1:c.*135T>G | NP_001278956.1:n.*135T>G | |
| NM_001292028.1:c.*135T>G | NP_001278957.1:n.*135T>G | |
| NM_000414.4:c.*135T>G MANE Select | NP_000405.1:n.*135T>G | |
| NM_001199291.3:c.*135T>G | NP_001186220.1:n.*135T>G | |
| NM_001199292.2:c.*135T>G | NP_001186221.1:n.*135T>G | |
| NM_001292027.2:c.*135T>G | NP_001278956.1:n.*135T>G | |
| NM_001292028.2:c.*135T>G | NP_001278957.1:n.*135T>G | |
| NM_001374497.1:c.*135T>G | NP_001361426.1:n.*135T>G | |
| NM_001374498.1:c.*135T>G | NP_001361427.1:n.*135T>G | |
| NM_001374499.1:c.*135T>G | NP_001361428.1:n.*135T>G | |
| NM_001374500.1:c.*135T>G | NP_001361429.1:n.*135T>G | |
| NM_001374501.1:c.*135T>G | NP_001361430.1:n.*135T>G | |
| NM_001374502.1:c.*135T>G | NP_001361431.1:n.*135T>G | |
| NM_001374503.1:c.*135T>G | NP_001361432.1:n.*135T>G | |
| NR_164653.1:n.2443T>G | ||
| NR_164654.1:n.2711T>G |