Linked Data
ClinVar Variation Id:
331076
dbSNP Id:
rs151216904
ExAC:
2:128017009 C / T
gnomAD v2:
2-128017009-C-T
gnomAD v3:
2-127259433-C-T
gnomAD v4:
2-127259433-C-T
COSMIC:
COSM94239
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127259433C>T , CM000664.2:g.127259433C>T | GRCh38 |
| NC_000002.11:g.128017009C>T , CM000664.1:g.128017009C>T | GRCh37 |
| NC_000002.10:g.127733479C>T | NCBI36 |
| NG_007454.1:g.39744G>A , LRG_462:g.39744G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.2080G>A MANE Select | ENSP00000285398.2:p.Ala694Thr | |
| ENST00000644317.1:c.*1569G>A | ENSP00000494012.1:n.*1569G>A | |
| ENST00000645233.1:c.*2292G>A | ENSP00000494116.1:n.*2292G>A | |
| ENST00000645467.1:c.*852G>A | ENSP00000494889.1:n.*852G>A | |
| ENST00000645736.1:c.1751G>A | ENSP00000494545.1:n.1751G>A | |
| ENST00000646042.1:n.2815G>A | ||
| ENST00000646654.1:c.*1547G>A | ENSP00000494526.1:n.*1547G>A | |
| ENST00000647169.1:c.2155G>A | ENSP00000495619.1:p.Ala719Thr | |
| ENST00000647496.1:c.396-1831G>A | ||
| ENST00000285398.6:c.2080G>A | ENSP00000285398.2:p.Ala694Thr | |
| ENST00000426778.5:c.*2061G>A | ENSP00000415335.1:n.*2061G>A | |
| ENST00000445889.5:c.*2123G>A | ENSP00000390888.1:n.*2123G>A | |
| ENST00000491292.5:n.3450G>A | ||
| NM_000122.1:c.2080G>A , LRG_462t1:c.2080G>A | NP_000113.1:p.Ala694Thr | |
| NM_001303416.1:c.1888G>A | NP_001290345.1:p.Ala630Thr | |
| NM_001303418.1:c.1888G>A | NP_001290347.1:p.Ala630Thr | |
| XM_011510794.1:c.2098G>A | XP_011509096.1:p.Ala700Thr | |
| XM_011510795.1:c.1642G>A | XP_011509097.1:p.Ala548Thr | |
| XM_011510794.2:c.2098G>A | XP_011509096.1:p.Ala700Thr | |
| XM_017003583.1:c.1624G>A | XP_016859072.1:p.Ala542Thr | |
| NM_000122.2:c.2080G>A MANE Select | NP_000113.1:p.Ala694Thr | |
| NM_001303416.2:c.1888G>A | NP_001290345.1:p.Ala630Thr | |
| NM_001303418.2:c.1888G>A | NP_001290347.1:p.Ala630Thr |