Linked Data
ClinVar Variation Id:
1649589
ClinVar RCV Id:
RCV002163236
dbSNP Id:
rs1220812891
gnomAD v2:
2-128050327-T-G
gnomAD v4:
2-127292751-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127292751T>G , CM000664.2:g.127292751T>G | GRCh38 |
| NC_000002.11:g.128050327T>G , CM000664.1:g.128050327T>G | GRCh37 |
| NC_000002.10:g.127766797T>G | NCBI36 |
| NG_007454.1:g.6426A>C , LRG_462:g.6426A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.330A>C MANE Select | ENSP00000285398.2:p.Pro110= | |
| ENST00000642308.1:c.330A>C | ENSP00000496684.1:p.Pro110= | |
| ENST00000644317.1:c.235-47A>C | ENSP00000494012.1:n.235-47A>C | |
| ENST00000645233.1:c.330A>C | ENSP00000494116.1:p.Pro110= | |
| ENST00000645467.1:c.330A>C | ENSP00000494889.1:p.Pro110= | |
| ENST00000645736.1:c.186A>C | ENSP00000494545.1:p.Pro62= | |
| ENST00000646654.1:c.330A>C | ENSP00000494526.1:p.Pro110= | |
| ENST00000647169.1:c.330A>C | ENSP00000495619.1:p.Pro110= | |
| ENST00000285398.6:c.330A>C | ENSP00000285398.2:p.Pro110= | |
| ENST00000426778.5:c.*311A>C | ENSP00000415335.1:n.*311A>C | |
| ENST00000445889.5:c.*373A>C | ENSP00000390888.1:n.*373A>C | |
| ENST00000462306.5:n.291-47A>C | ||
| ENST00000490062.1:n.307-47A>C | ||
| ENST00000494464.5:n.261-47A>C | ||
| NM_000122.1:c.330A>C , LRG_462t1:c.330A>C | NP_000113.1:p.Pro110= | |
| NM_001303416.1:c.138A>C | NP_001290345.1:p.Pro46= | |
| NM_001303418.1:c.138A>C | NP_001290347.1:p.Pro46= | |
| XM_011510794.1:c.330A>C | XP_011509096.1:p.Pro110= | |
| XM_011510795.1:c.-80-47A>C | XP_011509097.1:n.-80-47A>C | |
| XM_011510794.2:c.330A>C | XP_011509096.1:p.Pro110= | |
| XM_017003583.1:c.-80-47A>C | XP_016859072.1:n.-80-47A>C | |
| NM_000122.2:c.330A>C MANE Select | NP_000113.1:p.Pro110= | |
| NM_001303416.2:c.138A>C | NP_001290345.1:p.Pro46= | |
| NM_001303418.2:c.138A>C | NP_001290347.1:p.Pro46= |