Linked Data
ClinVar Variation Id:
496138
dbSNP Id:
rs141332865
ExAC:
11:125523667 A / G
gnomAD v2:
11-125523667-A-G
gnomAD v3:
11-125653772-A-G
gnomAD v4:
11-125653772-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.125653772A>G , CM000673.2:g.125653772A>G | GRCh38 |
| NC_000011.9:g.125523667A>G , CM000673.1:g.125523667A>G | GRCh37 |
| NC_000011.8:g.125028877A>G | NCBI36 |
| NG_030049.1:g.33637A>G | |
| NG_030049.2:g.33637A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711049.1:c.1308A>G | ENSP00000518558.1:p.Arg436= | |
| ENST00000438015.7:c.1260A>G MANE Select | ENSP00000388648.1:p.Arg420= | |
| ENST00000278916.8:c.1234-1453A>G | ENSP00000278916.4:n.1234-1453A>G | |
| ENST00000438015.6:c.1260A>G | ENSP00000388648.1:p.Arg420= | |
| ENST00000524737.6:c.1260A>G | ENSP00000432890.1:p.Arg420= | |
| ENST00000532449.6:c.1260A>G | ENSP00000481616.2:p.Arg420= | |
| ENST00000278916.7:c.1128A>G | ENSP00000278916.3:p.Arg376= | |
| ENST00000427383.6:c.1308A>G | ENSP00000391090.2:p.Arg436= | |
| ENST00000428830.6:c.1260A>G | ENSP00000412504.2:p.Arg420= | |
| ENST00000438015.5:c.1260A>G | ENSP00000388648.1:p.Arg420= | |
| ENST00000498122.4:c.99A>G | ENSP00000481614.1:p.Arg33= | |
| ENST00000524737.5:c.1260A>G | ENSP00000432890.1:p.Arg420= | |
| ENST00000528276.1:n.1377A>G | ||
| ENST00000532449.5:c.1234-1453A>G | ENSP00000481616.1:n.1234-1453A>G | |
| ENST00000534070.5:c.1260A>G | ENSP00000435371.1:p.Arg420= | |
| ENST00000544373.5:c.978A>G | ENSP00000442317.2:p.Arg326= | |
| NM_001114121.2:c.1260A>G | NP_001107593.1:p.Arg420= | |
| NM_001114122.2:c.1260A>G | NP_001107594.1:p.Arg420= | |
| NM_001244846.1:c.1234-1453A>G | NP_001231775.1:n.1234-1453A>G | |
| NM_001274.5:c.1260A>G | NP_001265.2:p.Arg420= | |
| NR_045204.1:n.1933A>G | ||
| NR_045205.1:n.1694A>G | ||
| XM_011542560.1:c.1308A>G | XP_011540862.1:p.Arg436= | |
| XM_011542561.1:c.1308A>G | XP_011540863.1:p.Arg436= | |
| XM_011542562.1:c.1059A>G | XP_011540864.1:p.Arg353= | |
| XM_011542563.1:c.978A>G | XP_011540865.1:p.Arg326= | |
| NM_001330427.1:c.1308A>G | NP_001317356.1:p.Arg436= | |
| NM_001330428.1:c.978A>G | NP_001317357.1:p.Arg326= | |
| XM_011542560.2:c.1308A>G | XP_011540862.1:p.Arg436= | |
| XM_017017146.2:c.1260A>G | XP_016872635.1:p.Arg420= | |
| XM_024448337.1:c.1260A>G | XP_024304105.1:p.Arg420= | |
| NM_001114122.3:c.1260A>G MANE Select | NP_001107594.1:p.Arg420= | |
| NM_001330427.2:c.957A>G | NP_001317356.2:p.Arg319= |