Linked Data
ClinVar Variation Id:
521057
dbSNP Id:
rs139229844
ExAC:
2:27682621 T / C
gnomAD v2:
2-27682621-T-C
gnomAD v3:
2-27459754-T-C
gnomAD v4:
2-27459754-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27459754T>C , CM000664.2:g.27459754T>C | GRCh38 |
| NC_000002.11:g.27682621T>C , CM000664.1:g.27682621T>C | GRCh37 |
| NC_000002.10:g.27536125T>C | NCBI36 |
| NG_034068.1:g.35058A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.2597A>G MANE Select | ENSP00000260570.3:p.Gln866Arg | |
| ENST00000674701.1:c.*1770A>G | ENSP00000502275.1:n.*1770A>G | |
| ENST00000674824.1:c.*612A>G | ENSP00000501824.1:n.*612A>G | |
| ENST00000674932.1:c.*2194A>G | ENSP00000501967.1:n.*2194A>G | |
| ENST00000675410.1:c.1916A>G | ENSP00000502030.1:p.Gln639Arg | |
| ENST00000675690.1:c.2531A>G | ENSP00000502283.1:p.Gln844Arg | |
| ENST00000676119.1:c.*1887A>G | ENSP00000501701.1:n.*1887A>G | |
| ENST00000260570.7:c.2597A>G | ENSP00000260570.3:p.Gln866Arg | |
| ENST00000507184.5:n.2729A>G | ||
| NM_015662.2:c.2597A>G | NP_056477.1:p.Gln866Arg | |
| XM_005264254.1:c.2531A>G | XP_005264311.1:p.Gln844Arg | |
| XM_006711986.2:c.2534A>G | XP_006712049.1:p.Gln845Arg | |
| XM_006711987.1:c.2597A>G | XP_006712050.1:p.Gln866Arg | |
| XM_011532757.1:c.1916A>G | XP_011531059.1:p.Gln639Arg | |
| XM_011532758.1:c.2597A>G | XP_011531060.1:p.Gln866Arg | |
| XM_011532759.1:c.1037A>G | XP_011531061.1:p.Gln346Arg | |
| XM_011532760.1:c.662A>G | XP_011531062.1:p.Gln221Arg | |
| XM_006711986.3:c.2534A>G | XP_006712049.1:p.Gln845Arg | |
| XM_011532757.2:c.1916A>G | XP_011531059.1:p.Gln639Arg | |
| XM_011532759.2:c.1037A>G | XP_011531061.1:p.Gln346Arg | |
| XM_011532760.2:c.662A>G | XP_011531062.1:p.Gln221Arg | |
| XM_017003790.1:c.2468A>G | XP_016859279.1:p.Gln823Arg | |
| XM_017003791.1:c.1916A>G | XP_016859280.1:p.Gln639Arg | |
| XM_017003792.1:c.2597A>G | XP_016859281.1:p.Gln866Arg | |
| XM_017003793.1:c.734A>G | XP_016859282.1:p.Gln245Arg | |
| XM_017003794.1:c.734A>G | XP_016859283.1:p.Gln245Arg | |
| XM_017003795.1:c.530A>G | XP_016859284.1:p.Gln177Arg | |
| XR_001738698.1:n.2652A>G | ||
| NM_015662.3:c.2597A>G MANE Select | NP_056477.1:p.Gln866Arg |