Linked Data
ClinVar Variation Id:
1929166
ClinVar RCV Id:
RCV002618596
dbSNP Id:
rs1383977385
gnomAD v2:
2-128017010-G-A
gnomAD v3:
2-127259434-G-A
gnomAD v4:
2-127259434-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127259434G>A , CM000664.2:g.127259434G>A | GRCh38 |
| NC_000002.11:g.128017010G>A , CM000664.1:g.128017010G>A | GRCh37 |
| NC_000002.10:g.127733480G>A | NCBI36 |
| NG_007454.1:g.39743C>T , LRG_462:g.39743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.2079C>T MANE Select | ENSP00000285398.2:p.Leu693= | |
| ENST00000644317.1:c.*1568C>T | ENSP00000494012.1:n.*1568C>T | |
| ENST00000645233.1:c.*2291C>T | ENSP00000494116.1:n.*2291C>T | |
| ENST00000645467.1:c.*851C>T | ENSP00000494889.1:n.*851C>T | |
| ENST00000645736.1:c.1750C>T | ENSP00000494545.1:n.1750C>T | |
| ENST00000646042.1:n.2814C>T | ||
| ENST00000646654.1:c.*1546C>T | ENSP00000494526.1:n.*1546C>T | |
| ENST00000647169.1:c.2154C>T | ENSP00000495619.1:p.Leu718= | |
| ENST00000647496.1:c.396-1832C>T | ||
| ENST00000285398.6:c.2079C>T | ENSP00000285398.2:p.Leu693= | |
| ENST00000426778.5:c.*2060C>T | ENSP00000415335.1:n.*2060C>T | |
| ENST00000445889.5:c.*2122C>T | ENSP00000390888.1:n.*2122C>T | |
| ENST00000491292.5:n.3449C>T | ||
| NM_000122.1:c.2079C>T , LRG_462t1:c.2079C>T | NP_000113.1:p.Leu693= | |
| NM_001303416.1:c.1887C>T | NP_001290345.1:p.Leu629= | |
| NM_001303418.1:c.1887C>T | NP_001290347.1:p.Leu629= | |
| XM_011510794.1:c.2097C>T | XP_011509096.1:p.Leu699= | |
| XM_011510795.1:c.1641C>T | XP_011509097.1:p.Leu547= | |
| XM_011510794.2:c.2097C>T | XP_011509096.1:p.Leu699= | |
| XM_017003583.1:c.1623C>T | XP_016859072.1:p.Leu541= | |
| NM_000122.2:c.2079C>T MANE Select | NP_000113.1:p.Leu693= | |
| NM_001303416.2:c.1887C>T | NP_001290345.1:p.Leu629= | |
| NM_001303418.2:c.1887C>T | NP_001290347.1:p.Leu629= |