Linked Data
ClinVar Variation Id:
1020285
dbSNP Id:
rs147394910
ExAC:
2:27676351 C / T
gnomAD v2:
2-27676351-C-T
gnomAD v3:
2-27453484-C-T
gnomAD v4:
2-27453484-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27453484C>T , CM000664.2:g.27453484C>T | GRCh38 |
| NC_000002.11:g.27676351C>T , CM000664.1:g.27676351C>T | GRCh37 |
| NC_000002.10:g.27529855C>T | NCBI36 |
| NG_034068.1:g.41328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.3851G>A MANE Select | ENSP00000260570.3:p.Arg1284Gln | |
| ENST00000674701.1:c.*3364G>A | ENSP00000502275.1:n.*3364G>A | |
| ENST00000674824.1:c.*2299G>A | ENSP00000501824.1:n.*2299G>A | |
| ENST00000674932.1:c.*4297G>A | ENSP00000501967.1:n.*4297G>A | |
| ENST00000675410.1:c.*1722G>A | ENSP00000502030.1:n.*1722G>A | |
| ENST00000675690.1:c.3785G>A | ENSP00000502283.1:p.Arg1262Gln | |
| ENST00000676119.1:c.*3141G>A | ENSP00000501701.1:n.*3141G>A | |
| ENST00000260570.7:c.3851G>A | ENSP00000260570.3:p.Arg1284Gln | |
| ENST00000443889.1:c.456G>A | ||
| ENST00000450564.1:c.183G>A | ENSP00000399017.1:p.Ser61= | |
| ENST00000475909.1:n.169G>A | ||
| ENST00000507184.5:n.4132G>A | ||
| ENST00000509128.5:c.246G>A | ||
| NM_015662.2:c.3851G>A | NP_056477.1:p.Arg1284Gln | |
| XM_005264254.1:c.3785G>A | XP_005264311.1:p.Arg1262Gln | |
| XM_006711986.2:c.3788G>A | XP_006712049.1:p.Arg1263Gln | |
| XM_006711987.1:c.3851G>A | XP_006712050.1:p.Arg1284Gln | |
| XM_011532757.1:c.3170G>A | XP_011531059.1:p.Arg1057Gln | |
| XM_011532758.1:c.3851G>A | XP_011531060.1:p.Arg1284Gln | |
| XM_011532759.1:c.2291G>A | XP_011531061.1:p.Arg764Gln | |
| XM_011532760.1:c.1916G>A | XP_011531062.1:p.Arg639Gln | |
| XM_006711986.3:c.3788G>A | XP_006712049.1:p.Arg1263Gln | |
| XM_011532757.2:c.3170G>A | XP_011531059.1:p.Arg1057Gln | |
| XM_011532759.2:c.2291G>A | XP_011531061.1:p.Arg764Gln | |
| XM_011532760.2:c.1916G>A | XP_011531062.1:p.Arg639Gln | |
| XM_017003790.1:c.3722G>A | XP_016859279.1:p.Arg1241Gln | |
| XM_017003791.1:c.3170G>A | XP_016859280.1:p.Arg1057Gln | |
| XM_017003792.1:c.3741G>A | XP_016859281.1:p.Ser1247= | |
| XM_017003793.1:c.1988G>A | XP_016859282.1:p.Arg663Gln | |
| XM_017003794.1:c.1988G>A | XP_016859283.1:p.Arg663Gln | |
| XM_017003795.1:c.1784G>A | XP_016859284.1:p.Arg595Gln | |
| XR_001738698.1:n.3796G>A | ||
| NM_015662.3:c.3851G>A MANE Select | NP_056477.1:p.Arg1284Gln |