Linked Data
ClinVar Variation Id:
291547
dbSNP Id:
rs372555374
ExAC:
1:103540343 A / C
gnomAD v2:
1-103540343-A-C
gnomAD v3:
1-103074787-A-C
gnomAD v4:
1-103074787-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103074787A>C , CM000663.2:g.103074787A>C | GRCh38 |
| NC_000001.10:g.103540343A>C , CM000663.1:g.103540343A>C | GRCh37 |
| NC_000001.9:g.103312931A>C | NCBI36 |
| NG_008033.1:g.38710T>G | |
| NG_008033.2:g.38710T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.489-7T>G MANE Select | ENSP00000359114.3:n.489-7T>G | |
| ENST00000461720.6:c.489-7T>G | ENSP00000494909.1:n.489-7T>G | |
| ENST00000644186.1:c.489-7T>G | ENSP00000493821.1:n.489-7T>G | |
| ENST00000645458.1:c.489-7T>G | ENSP00000494179.1:n.489-7T>G | |
| ENST00000647280.1:c.489-7T>G | ENSP00000494583.1:n.489-7T>G | |
| ENST00000353414.8:c.489-7T>G | ENSP00000302551.6:n.489-7T>G | |
| ENST00000358392.6:c.489-7T>G | ENSP00000351163.2:n.489-7T>G | |
| ENST00000370096.7:c.489-7T>G | ENSP00000359114.3:n.489-7T>G | |
| ENST00000427239.5:c.489-7T>G | ENSP00000408640.1:n.489-7T>G | |
| ENST00000447608.1:c.270-7T>G | ENSP00000410177.1:n.270-7T>G | |
| ENST00000512756.5:c.489-7T>G | ENSP00000426533.1:n.489-7T>G | |
| NM_001190709.1:c.489-7T>G | NP_001177638.1:n.489-7T>G | |
| NM_001854.3:c.489-7T>G | NP_001845.3:n.489-7T>G | |
| NM_080629.2:c.489-7T>G | NP_542196.2:n.489-7T>G | |
| NM_080630.3:c.489-7T>G | NP_542197.3:n.489-7T>G | |
| XM_011540719.1:c.489-7T>G | XP_011539021.1:n.489-7T>G | |
| XR_946545.1:n.887-7T>G | ||
| NR_134980.1:n.807-7T>G | ||
| XM_017000334.1:c.489-7T>G | XP_016855823.1:n.489-7T>G | |
| XM_017000335.1:c.489-7T>G | XP_016855824.1:n.489-7T>G | |
| XM_017000336.1:c.489-7T>G | XP_016855825.1:n.489-7T>G | |
| NM_001854.4:c.489-7T>G MANE Select | NP_001845.3:n.489-7T>G | |
| NM_080630.4:c.489-7T>G | NP_542197.3:n.489-7T>G | |
| NR_134980.2:n.833-7T>G | ||
| NM_001190709.2:c.489-7T>G | NP_001177638.1:n.489-7T>G | |
| NM_080629.3:c.489-7T>G | NP_542196.2:n.489-7T>G |