Linked Data
ClinVar Variation Id:
505831
dbSNP Id:
rs769742294
ExAC:
1:207930549 T / G
gnomAD v2:
1-207930549-T-G
gnomAD v3:
1-207757204-T-G
gnomAD v4:
1-207757204-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207757204T>G , CM000663.2:g.207757204T>G | GRCh38 |
| NC_000001.10:g.207930549T>G , CM000663.1:g.207930549T>G | GRCh37 |
| NC_000001.9:g.205997172T>G | NCBI36 |
| NG_009296.1:g.10148T>G , LRG_155:g.10148T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496723.2:n.454+2T>G | ||
| ENST00000636114.2:n.447+2T>G | ||
| ENST00000695777.1:c.286+2T>G | ENSP00000512167.1:n.286+2T>G | |
| ENST00000695778.1:c.286+2T>G | ENSP00000512168.1:n.286+2T>G | |
| ENST00000695779.1:n.462+2T>G | ||
| ENST00000695780.1:c.286+2T>G | ENSP00000512169.1:n.286+2T>G | |
| ENST00000695781.1:c.286+2T>G | ENSP00000512170.1:n.286+2T>G | |
| ENST00000695782.1:c.286+2T>G | ENSP00000512171.1:n.286+2T>G | |
| ENST00000695783.1:n.438+2T>G | ||
| ENST00000695784.1:c.286+2T>G | ENSP00000512172.1:n.286+2T>G | |
| ENST00000695785.1:n.212+2T>G | ||
| ENST00000367042.6:c.286+2T>G MANE Select | ENSP00000356009.1:n.286+2T>G | |
| ENST00000322875.8:c.286+2T>G | ENSP00000313875.4:n.286+2T>G | |
| ENST00000322918.9:c.286+2T>G | ENSP00000314664.5:n.286+2T>G | |
| ENST00000354848.5:c.286+2T>G | ENSP00000346912.1:n.286+2T>G | |
| ENST00000357714.5:c.286+2T>G | ENSP00000350346.1:n.286+2T>G | |
| ENST00000358170.6:c.286+2T>G | ENSP00000350893.2:n.286+2T>G | |
| ENST00000360212.6:c.286+2T>G | ENSP00000353342.2:n.286+2T>G | |
| ENST00000367041.5:c.286+2T>G | ENSP00000356008.1:n.286+2T>G | |
| ENST00000367042.5:c.286+2T>G | ENSP00000356009.1:n.286+2T>G | |
| ENST00000367047.5:c.98-336T>G | ENSP00000356014.1:n.98-336T>G | |
| ENST00000469535.5:n.431+2T>G | ||
| ENST00000480003.5:c.286+2T>G | ENSP00000418471.1:n.286+2T>G | |
| ENST00000493796.5:n.219+2T>G | ||
| NM_002389.4:c.286+2T>G , LRG_155t1:c.286+2T>G | NP_002380.3:n.286+2T>G | |
| NM_153826.3:c.286+2T>G | NP_722548.1:n.286+2T>G | |
| NM_172350.2:c.286+2T>G | NP_758860.1:n.286+2T>G | |
| NM_172351.2:c.286+2T>G | NP_758861.1:n.286+2T>G | |
| NM_172352.2:c.286+2T>G | NP_758862.1:n.286+2T>G | |
| NM_172353.2:c.286+2T>G | NP_758863.1:n.286+2T>G | |
| NM_172359.2:c.286+2T>G | NP_758869.1:n.286+2T>G | |
| NM_172361.2:c.286+2T>G | NP_758871.1:n.286+2T>G | |
| XM_011509563.1:c.286+2T>G | XP_011507865.1:n.286+2T>G | |
| XM_011509564.1:c.286+2T>G | XP_011507866.1:n.286+2T>G | |
| NM_172355.2:c.286+2T>G | NP_758865.1:n.286+2T>G | |
| NM_172356.2:c.286+2T>G | NP_758866.1:n.286+2T>G | |
| NM_172357.2:c.286+2T>G | NP_758867.1:n.286+2T>G | |
| NM_172358.2:c.286+2T>G | NP_758868.1:n.286+2T>G | |
| XM_011509563.2:c.286+2T>G | XP_011507865.1:n.286+2T>G | |
| XM_017001308.2:c.286+2T>G | XP_016856797.1:n.286+2T>G | |
| XR_001737177.2:n.443+2T>G | ||
| XR_002956621.1:n.443+2T>G | ||
| XR_002956622.1:n.443+2T>G | ||
| NM_153826.4:c.286+2T>G | NP_722548.1:n.286+2T>G | |
| NM_172350.3:c.286+2T>G | NP_758860.1:n.286+2T>G | |
| NM_172351.3:c.286+2T>G MANE Select | NP_758861.1:n.286+2T>G | |
| NM_172352.3:c.286+2T>G | NP_758862.1:n.286+2T>G | |
| NM_172353.3:c.286+2T>G | NP_758863.1:n.286+2T>G | |
| NM_172355.3:c.286+2T>G | NP_758865.1:n.286+2T>G | |
| NM_172356.3:c.286+2T>G | NP_758866.1:n.286+2T>G | |
| NM_172357.3:c.286+2T>G | NP_758867.1:n.286+2T>G | |
| NM_172358.3:c.286+2T>G | NP_758868.1:n.286+2T>G | |
| NM_172359.3:c.286+2T>G | NP_758869.1:n.286+2T>G | |
| NM_172361.3:c.286+2T>G | NP_758871.1:n.286+2T>G |