Linked Data
ClinVar Variation Id:
97024
dbSNP Id:
rs587777079
ExAC:
2:27670411 G / A
gnomAD v2:
2-27670411-G-A
gnomAD v3:
2-27447544-G-A
gnomAD v4:
2-27447544-G-A
COSMIC:
COSM6215972
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27447544G>A , CM000664.2:g.27447544G>A | GRCh38 |
| NC_000002.11:g.27670411G>A , CM000664.1:g.27670411G>A | GRCh37 |
| NC_000002.10:g.27523915G>A | NCBI36 |
| NG_034068.1:g.47268C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.4630C>T MANE Select | ENSP00000260570.3:p.Arg1544Cys | |
| ENST00000674594.1:n.1242C>T | ||
| ENST00000674701.1:c.*4143C>T | ENSP00000502275.1:n.*4143C>T | |
| ENST00000674824.1:c.*3078C>T | ENSP00000501824.1:n.*3078C>T | |
| ENST00000674932.1:c.*5076C>T | ENSP00000501967.1:n.*5076C>T | |
| ENST00000675410.1:c.*2619C>T | ENSP00000502030.1:n.*2619C>T | |
| ENST00000675690.1:c.4564C>T | ENSP00000502283.1:p.Arg1522Cys | |
| ENST00000676119.1:c.*3856C>T | ENSP00000501701.1:n.*3856C>T | |
| ENST00000260570.7:c.4630C>T | ENSP00000260570.3:p.Arg1544Cys | |
| ENST00000420854.1:c.202C>T | ENSP00000398633.1:p.Arg68Cys | |
| ENST00000480892.1:n.33C>T | ||
| ENST00000507184.5:n.4911C>T | ||
| ENST00000509128.5:c.1048C>T | ||
| NM_015662.2:c.4630C>T | NP_056477.1:p.Arg1544Cys | |
| XM_005264254.1:c.4564C>T | XP_005264311.1:p.Arg1522Cys | |
| XM_006711986.2:c.4567C>T | XP_006712049.1:p.Arg1523Cys | |
| XM_006711987.1:c.4630C>T | XP_006712050.1:p.Arg1544Cys | |
| XM_011532757.1:c.3949C>T | XP_011531059.1:p.Arg1317Cys | |
| XM_011532759.1:c.3070C>T | XP_011531061.1:p.Arg1024Cys | |
| XM_011532760.1:c.2695C>T | XP_011531062.1:p.Arg899Cys | |
| XM_006711986.3:c.4567C>T | XP_006712049.1:p.Arg1523Cys | |
| XM_011532757.2:c.3949C>T | XP_011531059.1:p.Arg1317Cys | |
| XM_011532759.2:c.3070C>T | XP_011531061.1:p.Arg1024Cys | |
| XM_011532760.2:c.2695C>T | XP_011531062.1:p.Arg899Cys | |
| XM_017003790.1:c.4501C>T | XP_016859279.1:p.Arg1501Cys | |
| XM_017003791.1:c.3949C>T | XP_016859280.1:p.Arg1317Cys | |
| XM_017003793.1:c.2767C>T | XP_016859282.1:p.Arg923Cys | |
| XM_017003794.1:c.2767C>T | XP_016859283.1:p.Arg923Cys | |
| XM_017003795.1:c.2563C>T | XP_016859284.1:p.Arg855Cys | |
| NM_015662.3:c.4630C>T MANE Select | NP_056477.1:p.Arg1544Cys |