Linked Data
ClinVar Variation Id:
331087
dbSNP Id:
rs200833462
ExAC:
2:128046899 G / A
gnomAD v2:
2-128046899-G-A
gnomAD v3:
2-127289323-G-A
gnomAD v4:
2-127289323-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127289323G>A , CM000664.2:g.127289323G>A | GRCh38 |
| NC_000002.11:g.128046899G>A , CM000664.1:g.128046899G>A | GRCh37 |
| NC_000002.10:g.127763369G>A | NCBI36 |
| NG_007454.1:g.9854C>T , LRG_462:g.9854C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.822+14C>T MANE Select | ENSP00000285398.2:n.822+14C>T | |
| ENST00000643982.1:n.419+14C>T | ||
| ENST00000644317.1:c.*311+14C>T | ENSP00000494012.1:n.*311+14C>T | |
| ENST00000645233.1:c.*1034+14C>T | ENSP00000494116.1:n.*1034+14C>T | |
| ENST00000645467.1:c.822+14C>T | ENSP00000494889.1:n.822+14C>T | |
| ENST00000645736.1:c.678+14C>T | ENSP00000494545.1:n.678+14C>T | |
| ENST00000646042.1:n.1557+14C>T | ||
| ENST00000646654.1:c.*289+14C>T | ENSP00000494526.1:n.*289+14C>T | |
| ENST00000647169.1:c.822+14C>T | ENSP00000495619.1:n.822+14C>T | |
| ENST00000647496.1:c.395+14C>T | ||
| ENST00000285398.6:c.822+14C>T | ENSP00000285398.2:n.822+14C>T | |
| ENST00000426778.5:c.*803+14C>T | ENSP00000415335.1:n.*803+14C>T | |
| ENST00000445889.5:c.*865+14C>T | ENSP00000390888.1:n.*865+14C>T | |
| ENST00000456257.1:c.371+14C>T | ||
| ENST00000494464.5:n.893+14C>T | ||
| NM_000122.1:c.822+14C>T , LRG_462t1:c.822+14C>T | NP_000113.1:n.822+14C>T | |
| NM_001303416.1:c.630+14C>T | NP_001290345.1:n.630+14C>T | |
| NM_001303418.1:c.630+14C>T | NP_001290347.1:n.630+14C>T | |
| XM_011510794.1:c.840+14C>T | XP_011509096.1:n.840+14C>T | |
| XM_011510795.1:c.384+14C>T | XP_011509097.1:n.384+14C>T | |
| XM_011510794.2:c.840+14C>T | XP_011509096.1:n.840+14C>T | |
| XM_017003583.1:c.366+14C>T | XP_016859072.1:n.366+14C>T | |
| NM_000122.2:c.822+14C>T MANE Select | NP_000113.1:n.822+14C>T | |
| NM_001303416.2:c.630+14C>T | NP_001290345.1:n.630+14C>T | |
| NM_001303418.2:c.630+14C>T | NP_001290347.1:n.630+14C>T |