Linked Data
ClinVar Variation Id:
331088
dbSNP Id:
rs781533251
ExAC:
2:128047250 C / T
gnomAD v2:
2-128047250-C-T
gnomAD v3:
2-127289674-C-T
gnomAD v4:
2-127289674-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127289674C>T , CM000664.2:g.127289674C>T | GRCh38 |
| NC_000002.11:g.128047250C>T , CM000664.1:g.128047250C>T | GRCh37 |
| NC_000002.10:g.127763720C>T | NCBI36 |
| NG_007454.1:g.9503G>A , LRG_462:g.9503G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.657+15G>A MANE Select | ENSP00000285398.2:n.657+15G>A | |
| ENST00000642308.1:c.*697+15G>A | ENSP00000496684.1:n.*697+15G>A | |
| ENST00000643982.1:n.254+15G>A | ||
| ENST00000644317.1:c.*146+15G>A | ENSP00000494012.1:n.*146+15G>A | |
| ENST00000645233.1:c.*869+15G>A | ENSP00000494116.1:n.*869+15G>A | |
| ENST00000645467.1:c.657+15G>A | ENSP00000494889.1:n.657+15G>A | |
| ENST00000645736.1:c.513+15G>A | ENSP00000494545.1:n.513+15G>A | |
| ENST00000646042.1:n.1220G>A | ||
| ENST00000646654.1:c.*124+15G>A | ENSP00000494526.1:n.*124+15G>A | |
| ENST00000647169.1:c.657+15G>A | ENSP00000495619.1:n.657+15G>A | |
| ENST00000647496.1:c.230+15G>A | ||
| ENST00000285398.6:c.657+15G>A | ENSP00000285398.2:n.657+15G>A | |
| ENST00000426778.5:c.*638+15G>A | ENSP00000415335.1:n.*638+15G>A | |
| ENST00000445889.5:c.*700+15G>A | ENSP00000390888.1:n.*700+15G>A | |
| ENST00000456257.1:c.188+15G>A | ||
| ENST00000460485.1:n.517G>A | ||
| ENST00000494464.5:n.556G>A | ||
| NM_000122.1:c.657+15G>A , LRG_462t1:c.657+15G>A | NP_000113.1:n.657+15G>A | |
| NM_001303416.1:c.465+15G>A | NP_001290345.1:n.465+15G>A | |
| NM_001303418.1:c.465+15G>A | NP_001290347.1:n.465+15G>A | |
| XM_011510794.1:c.657+15G>A | XP_011509096.1:n.657+15G>A | |
| XM_011510795.1:c.201+15G>A | XP_011509097.1:n.201+15G>A | |
| XM_011510794.2:c.657+15G>A | XP_011509096.1:n.657+15G>A | |
| XM_017003583.1:c.201+15G>A | XP_016859072.1:n.201+15G>A | |
| NM_000122.2:c.657+15G>A MANE Select | NP_000113.1:n.657+15G>A | |
| NM_001303416.2:c.465+15G>A | NP_001290345.1:n.465+15G>A | |
| NM_001303418.2:c.465+15G>A | NP_001290347.1:n.465+15G>A |