Linked Data
ClinVar Variation Id:
355065
dbSNP Id:
rs17219737
ExAC:
6:112390565 A / G
gnomAD v2:
6-112390565-A-G
gnomAD v3:
6-112069362-A-G
gnomAD v4:
6-112069362-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112069362A>G , CM000668.2:g.112069362A>G | GRCh38 |
| NC_000006.11:g.112390565A>G , CM000668.1:g.112390565A>G | GRCh37 |
| NC_000006.10:g.112497258A>G | NCBI36 |
| NG_011748.1:g.20288A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.807A>G MANE Select | ENSP00000357655.4:p.Gln269= | |
| ENST00000639360.1:c.708A>G | ENSP00000491774.1:p.Gln236= | |
| ENST00000230529.9:c.807A>G | ENSP00000230529.5:p.Gln269= | |
| ENST00000361714.5:c.807A>G | ENSP00000354734.2:p.Gln269= | |
| ENST00000368663.4:c.*113A>G | ENSP00000357652.4:n.*113A>G | |
| ENST00000368664.7:c.*211A>G | ENSP00000357653.3:n.*211A>G | |
| ENST00000368666.6:c.861A>G | ENSP00000357655.3:p.Gln287= | |
| ENST00000409166.5:c.135A>G | ENSP00000386467.1:p.Gln45= | |
| ENST00000454589.5:c.*211A>G | ENSP00000395928.1:n.*211A>G | |
| ENST00000604763.5:c.807A>G | ENSP00000473777.1:p.Gln269= | |
| ENST00000613648.1:n.642A>G | ||
| ENST00000620524.3:n.738A>G | ||
| NM_003880.3:c.807A>G | NP_003871.1:p.Gln269= | |
| NM_198239.1:c.861A>G | NP_937882.1:p.Gln287= | |
| NR_125353.1:n.1061A>G | ||
| NR_125354.1:n.981A>G | ||
| XM_011536220.1:c.807A>G | XP_011534522.1:p.Gln269= | |
| XM_011536221.1:c.*211A>G | XP_011534523.1:n.*211A>G | |
| XM_011536223.1:c.225A>G | XP_011534525.1:p.Gln75= | |
| XM_011536223.3:c.225A>G | XP_011534525.1:p.Gln75= | |
| XR_001743705.1:n.1409A>G | ||
| NM_003880.4:c.807A>G | NP_003871.1:p.Gln269= | |
| NM_198239.2:c.807A>G MANE Select | NP_937882.2:p.Gln269= | |
| NR_125353.2:n.1125A>G | ||
| NR_125354.3:n.952A>G |