Linked Data
ClinVar Variation Id:
1514642
ClinVar RCV Id:
RCV003773439
dbSNP Id:
rs2131262339
gnomAD v4:
9-377025-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.377025C>G , CM000671.2:g.377025C>G | GRCh38 |
| NC_000009.11:g.377025C>G , CM000671.1:g.377025C>G | GRCh37 |
| NC_000009.10:g.367025C>G | NCBI36 |
| NG_017007.1:g.167161C>G , LRG_196:g.167161C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.2050C>G | ENSP00000371766.2:p.Gln684Glu | |
| ENST00000382331.6:n.751C>G | ||
| ENST00000483757.6:c.*941C>G | ENSP00000417691.2:n.*941C>G | |
| ENST00000682260.1:n.2150C>G | ||
| ENST00000685949.1:n.1042C>G | ||
| ENST00000432829.7:c.2254C>G MANE Select | ENSP00000394888.3:p.Gln752Glu | |
| ENST00000382329.1:c.655C>G | ENSP00000371766.1:p.Gln219Glu | |
| ENST00000382331.5:c.160C>G | ENSP00000371768.1:p.Gln54Glu | |
| ENST00000432829.6:c.2254C>G | ENSP00000394888.3:p.Gln752Glu | |
| ENST00000453981.5:c.2050C>G | ENSP00000408464.2:p.Gln684Glu | |
| ENST00000469391.5:c.2050C>G | ENSP00000419438.1:p.Gln684Glu | |
| ENST00000483757.5:c.*1729C>G | ENSP00000417691.1:n.*1729C>G | |
| ENST00000495184.5:n.4209C>G | ||
| NM_001190458.1:c.2050C>G | NP_001177387.1:p.Gln684Glu | |
| NM_001193536.1:c.2050C>G | NP_001180465.1:p.Gln684Glu | |
| NM_203447.3:c.2254C>G , LRG_196t1:c.2254C>G | NP_982272.2:p.Gln752Glu | |
| XM_011518045.1:c.2050C>G | XP_011516347.1:p.Gln684Glu | |
| XM_011518046.1:c.2116C>G | XP_011516348.1:p.Gln706Glu | |
| XM_011518047.1:c.2050C>G | XP_011516349.1:p.Gln684Glu | |
| XM_011518048.1:c.2050C>G | XP_011516350.1:p.Gln684Glu | |
| XM_011518049.1:c.490C>G | XP_011516351.1:p.Gln164Glu | |
| XM_011518045.3:c.2050C>G | XP_011516347.1:p.Gln684Glu | |
| XM_011518046.2:c.2116C>G | XP_011516348.1:p.Gln706Glu | |
| XM_011518047.3:c.2050C>G | XP_011516349.1:p.Gln684Glu | |
| XM_011518048.2:c.2050C>G | XP_011516350.1:p.Gln684Glu | |
| XM_011518049.2:c.490C>G | XP_011516351.1:p.Gln164Glu | |
| XM_017015173.1:c.2050C>G | XP_016870662.1:p.Gln684Glu | |
| XM_017015174.1:c.2116C>G | XP_016870663.1:p.Gln706Glu | |
| NM_001190458.2:c.2050C>G | NP_001177387.1:p.Gln684Glu | |
| NM_001193536.2:c.2050C>G | NP_001180465.1:p.Gln684Glu | |
| NM_203447.4:c.2254C>G MANE Select | NP_982272.2:p.Gln752Glu |