Linked Data
ClinVar Variation Id:
291551
dbSNP Id:
rs200564243
ExAC:
1:103548540 G / A
gnomAD v2:
1-103548540-G-A
gnomAD v3:
1-103082984-G-A
gnomAD v4:
1-103082984-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103082984G>A , CM000663.2:g.103082984G>A | GRCh38 |
| NC_000001.10:g.103548540G>A , CM000663.1:g.103548540G>A | GRCh37 |
| NC_000001.9:g.103321128G>A | NCBI36 |
| NG_008033.1:g.30513C>T | |
| NG_008033.2:g.30513C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.107-12C>T MANE Select | ENSP00000359114.3:n.107-12C>T | |
| ENST00000461720.6:c.107-12C>T | ENSP00000494909.1:n.107-12C>T | |
| ENST00000644186.1:c.107-12C>T | ENSP00000493821.1:n.107-12C>T | |
| ENST00000645458.1:c.107-12C>T | ENSP00000494179.1:n.107-12C>T | |
| ENST00000647280.1:c.107-12C>T | ENSP00000494583.1:n.107-12C>T | |
| ENST00000353414.8:c.107-12C>T | ENSP00000302551.6:n.107-12C>T | |
| ENST00000358392.6:c.107-12C>T | ENSP00000351163.2:n.107-12C>T | |
| ENST00000370096.7:c.107-12C>T | ENSP00000359114.3:n.107-12C>T | |
| ENST00000427239.5:c.107-12C>T | ENSP00000408640.1:n.107-12C>T | |
| ENST00000512756.5:c.107-12C>T | ENSP00000426533.1:n.107-12C>T | |
| NM_001190709.1:c.107-12C>T | NP_001177638.1:n.107-12C>T | |
| NM_001854.3:c.107-12C>T | NP_001845.3:n.107-12C>T | |
| NM_080629.2:c.107-12C>T | NP_542196.2:n.107-12C>T | |
| NM_080630.3:c.107-12C>T | NP_542197.3:n.107-12C>T | |
| XM_011540719.1:c.107-12C>T | XP_011539021.1:n.107-12C>T | |
| XR_946545.1:n.505-12C>T | ||
| NR_134980.1:n.425-12C>T | ||
| XM_017000334.1:c.107-12C>T | XP_016855823.1:n.107-12C>T | |
| XM_017000335.1:c.107-12C>T | XP_016855824.1:n.107-12C>T | |
| XM_017000336.1:c.107-12C>T | XP_016855825.1:n.107-12C>T | |
| NM_001854.4:c.107-12C>T MANE Select | NP_001845.3:n.107-12C>T | |
| NM_080630.4:c.107-12C>T | NP_542197.3:n.107-12C>T | |
| NR_134980.2:n.451-12C>T | ||
| NM_001190709.2:c.107-12C>T | NP_001177638.1:n.107-12C>T | |
| NM_080629.3:c.107-12C>T | NP_542196.2:n.107-12C>T |