Linked Data
ClinVar Variation Id:
331073
dbSNP Id:
rs114710997
ExAC:
2:128016977 C / T
gnomAD v2:
2-128016977-C-T
gnomAD v3:
2-127259401-C-T
gnomAD v4:
2-127259401-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127259401C>T , CM000664.2:g.127259401C>T | GRCh38 |
| NC_000002.11:g.128016977C>T , CM000664.1:g.128016977C>T | GRCh37 |
| NC_000002.10:g.127733447C>T | NCBI36 |
| NG_007454.1:g.39776G>A , LRG_462:g.39776G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.2112G>A MANE Select | ENSP00000285398.2:p.Ser704= | |
| ENST00000644317.1:c.*1601G>A | ENSP00000494012.1:n.*1601G>A | |
| ENST00000645233.1:c.*2324G>A | ENSP00000494116.1:n.*2324G>A | |
| ENST00000645467.1:c.*884G>A | ENSP00000494889.1:n.*884G>A | |
| ENST00000645736.1:c.1783G>A | ENSP00000494545.1:n.1783G>A | |
| ENST00000646042.1:n.2847G>A | ||
| ENST00000646654.1:c.*1579G>A | ENSP00000494526.1:n.*1579G>A | |
| ENST00000647169.1:c.2187G>A | ENSP00000495619.1:p.Ser729= | |
| ENST00000647496.1:c.396-1799G>A | ||
| ENST00000285398.6:c.2112G>A | ENSP00000285398.2:p.Ser704= | |
| ENST00000426778.5:c.*2093G>A | ENSP00000415335.1:n.*2093G>A | |
| ENST00000445889.5:c.*2155G>A | ENSP00000390888.1:n.*2155G>A | |
| ENST00000491292.5:n.3482G>A | ||
| NM_000122.1:c.2112G>A , LRG_462t1:c.2112G>A | NP_000113.1:p.Ser704= | |
| NM_001303416.1:c.1920G>A | NP_001290345.1:p.Ser640= | |
| NM_001303418.1:c.1920G>A | NP_001290347.1:p.Ser640= | |
| XM_011510794.1:c.2130G>A | XP_011509096.1:p.Ser710= | |
| XM_011510795.1:c.1674G>A | XP_011509097.1:p.Ser558= | |
| XM_011510794.2:c.2130G>A | XP_011509096.1:p.Ser710= | |
| XM_017003583.1:c.1656G>A | XP_016859072.1:p.Ser552= | |
| NM_000122.2:c.2112G>A MANE Select | NP_000113.1:p.Ser704= | |
| NM_001303416.2:c.1920G>A | NP_001290345.1:p.Ser640= | |
| NM_001303418.2:c.1920G>A | NP_001290347.1:p.Ser640= |