Linked Data
ClinVar Variation Id:
45350
dbSNP Id:
rs186640807
ExAC:
2:39240595 A / C
gnomAD v2:
2-39240595-A-C
gnomAD v3:
2-39013454-A-C
gnomAD v4:
2-39013454-A-C
ERepo:
CA136097/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39013454A>C , CM000664.2:g.39013454A>C | GRCh38 |
| NC_000002.11:g.39240595A>C , CM000664.1:g.39240595A>C | GRCh37 |
| NC_000002.10:g.39094099A>C | NCBI36 |
| NG_007530.1:g.112010T>G , LRG_754:g.112010T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.934+6T>G | ENSP00000509424.1:n.934+6T>G | |
| ENST00000688043.1:n.2394T>G | ||
| ENST00000689668.1:n.2174+6T>G | ||
| ENST00000690514.1:n.256+6T>G | ||
| ENST00000690876.1:c.2056+6T>G | ENSP00000508955.1:n.2056+6T>G | |
| ENST00000691229.1:c.2056+6T>G | ENSP00000510437.1:n.2056+6T>G | |
| ENST00000692089.1:c.2056+6T>G | ENSP00000508626.1:n.2056+6T>G | |
| ENST00000692620.1:c.934+6T>G | ENSP00000509311.1:n.934+6T>G | |
| ENST00000402219.8:c.2167+6T>G MANE Select | ENSP00000384675.2:n.2167+6T>G | |
| ENST00000395038.6:c.2167+6T>G | ENSP00000378479.2:n.2167+6T>G | |
| ENST00000402219.6:c.2167+6T>G | ENSP00000384675.2:n.2167+6T>G | |
| ENST00000426016.5:c.2167+6T>G | ENSP00000387784.1:n.2167+6T>G | |
| NM_005633.3:c.2167+6T>G , LRG_754t1:c.2167+6T>G | NP_005624.2:n.2167+6T>G | |
| XM_005264515.3:c.2167+6T>G | XP_005264572.1:n.2167+6T>G | |
| XM_011533060.1:c.2260+6T>G | XP_011531362.1:n.2260+6T>G | |
| XM_011533061.1:c.2260+6T>G | XP_011531363.1:n.2260+6T>G | |
| XM_011533062.1:c.2146+6T>G | XP_011531364.1:n.2146+6T>G | |
| XM_011533063.1:c.2143+6T>G | XP_011531365.1:n.2143+6T>G | |
| XM_011533064.1:c.1996+6T>G | XP_011531366.1:n.1996+6T>G | |
| XM_011533065.1:c.2260+6T>G | XP_011531367.1:n.2260+6T>G | |
| XM_011533066.1:c.1102+6T>G | XP_011531368.1:n.1102+6T>G | |
| XM_005264515.4:c.2167+6T>G | XP_005264572.1:n.2167+6T>G | |
| XM_011533062.2:c.2146+6T>G | XP_011531364.1:n.2146+6T>G | |
| XM_011533064.2:c.1996+6T>G | XP_011531366.1:n.1996+6T>G | |
| NM_001382394.1:c.2146+6T>G | NP_001369323.1:n.2146+6T>G | |
| NM_001382395.1:c.2167+6T>G | NP_001369324.1:n.2167+6T>G | |
| NM_005633.4:c.2167+6T>G MANE Select | NP_005624.2:n.2167+6T>G |