Linked Data
ClinVar Variation Id:
331085
dbSNP Id:
rs4150417
ExAC:
2:128046233 T / C
gnomAD v2:
2-128046233-T-C
gnomAD v3:
2-127288657-T-C
gnomAD v4:
2-127288657-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127288657T>C , CM000664.2:g.127288657T>C | GRCh38 |
| NC_000002.11:g.128046233T>C , CM000664.1:g.128046233T>C | GRCh37 |
| NC_000002.10:g.127762703T>C | NCBI36 |
| NG_007454.1:g.10520A>G , LRG_462:g.10520A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.1027+3A>G MANE Select | ENSP00000285398.2:n.1027+3A>G | |
| ENST00000644317.1:c.*516+3A>G | ENSP00000494012.1:n.*516+3A>G | |
| ENST00000645233.1:c.*1239+3A>G | ENSP00000494116.1:n.*1239+3A>G | |
| ENST00000645467.1:c.1027+3A>G | ENSP00000494889.1:n.1027+3A>G | |
| ENST00000645736.1:c.883+3A>G | ENSP00000494545.1:n.883+3A>G | |
| ENST00000646042.1:n.1762+3A>G | ||
| ENST00000646654.1:c.*494+3A>G | ENSP00000494526.1:n.*494+3A>G | |
| ENST00000647169.1:c.1027+3A>G | ENSP00000495619.1:n.1027+3A>G | |
| ENST00000647496.1:c.395+680A>G | ||
| ENST00000285398.6:c.1027+3A>G | ENSP00000285398.2:n.1027+3A>G | |
| ENST00000426778.5:c.*1008+3A>G | ENSP00000415335.1:n.*1008+3A>G | |
| ENST00000445889.5:c.*1070+3A>G | ENSP00000390888.1:n.*1070+3A>G | |
| ENST00000494464.5:n.1098+3A>G | ||
| NM_000122.1:c.1027+3A>G , LRG_462t1:c.1027+3A>G | NP_000113.1:n.1027+3A>G | |
| NM_001303416.1:c.835+3A>G | NP_001290345.1:n.835+3A>G | |
| NM_001303418.1:c.835+3A>G | NP_001290347.1:n.835+3A>G | |
| XM_011510794.1:c.1045+3A>G | XP_011509096.1:n.1045+3A>G | |
| XM_011510795.1:c.589+3A>G | XP_011509097.1:n.589+3A>G | |
| XM_011510794.2:c.1045+3A>G | XP_011509096.1:n.1045+3A>G | |
| XM_017003583.1:c.571+3A>G | XP_016859072.1:n.571+3A>G | |
| NM_000122.2:c.1027+3A>G MANE Select | NP_000113.1:n.1027+3A>G | |
| NM_001303416.2:c.835+3A>G | NP_001290345.1:n.835+3A>G | |
| NM_001303418.2:c.835+3A>G | NP_001290347.1:n.835+3A>G |