Linked Data
ClinVar Variation Id:
221925
dbSNP Id:
rs369191459
ExAC:
2:27676322 G / A
gnomAD v2:
2-27676322-G-A
gnomAD v3:
2-27453455-G-A
gnomAD v4:
2-27453455-G-A
PubMed:
PMID:26893459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27453455G>A , CM000664.2:g.27453455G>A | GRCh38 |
| NC_000002.11:g.27676322G>A , CM000664.1:g.27676322G>A | GRCh37 |
| NC_000002.10:g.27529826G>A | NCBI36 |
| NG_034068.1:g.41357C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.3880C>T MANE Select | ENSP00000260570.3:p.Arg1294Cys | |
| ENST00000674701.1:c.*3393C>T | ENSP00000502275.1:n.*3393C>T | |
| ENST00000674824.1:c.*2328C>T | ENSP00000501824.1:n.*2328C>T | |
| ENST00000674932.1:c.*4326C>T | ENSP00000501967.1:n.*4326C>T | |
| ENST00000675410.1:c.*1751C>T | ENSP00000502030.1:n.*1751C>T | |
| ENST00000675690.1:c.3814C>T | ENSP00000502283.1:p.Arg1272Cys | |
| ENST00000676119.1:c.*3170C>T | ENSP00000501701.1:n.*3170C>T | |
| ENST00000260570.7:c.3880C>T | ENSP00000260570.3:p.Arg1294Cys | |
| ENST00000443889.1:c.485C>T | ||
| ENST00000450564.1:c.212C>T | ENSP00000399017.1:p.Pro71Leu | |
| ENST00000475909.1:n.198C>T | ||
| ENST00000507184.5:n.4161C>T | ||
| ENST00000509128.5:c.275C>T | ||
| NM_015662.2:c.3880C>T | NP_056477.1:p.Arg1294Cys | |
| XM_005264254.1:c.3814C>T | XP_005264311.1:p.Arg1272Cys | |
| XM_006711986.2:c.3817C>T | XP_006712049.1:p.Arg1273Cys | |
| XM_006711987.1:c.3880C>T | XP_006712050.1:p.Arg1294Cys | |
| XM_011532757.1:c.3199C>T | XP_011531059.1:p.Arg1067Cys | |
| XM_011532758.1:c.3880C>T | XP_011531060.1:p.Arg1294Cys | |
| XM_011532759.1:c.2320C>T | XP_011531061.1:p.Arg774Cys | |
| XM_011532760.1:c.1945C>T | XP_011531062.1:p.Arg649Cys | |
| XM_006711986.3:c.3817C>T | XP_006712049.1:p.Arg1273Cys | |
| XM_011532757.2:c.3199C>T | XP_011531059.1:p.Arg1067Cys | |
| XM_011532759.2:c.2320C>T | XP_011531061.1:p.Arg774Cys | |
| XM_011532760.2:c.1945C>T | XP_011531062.1:p.Arg649Cys | |
| XM_017003790.1:c.3751C>T | XP_016859279.1:p.Arg1251Cys | |
| XM_017003791.1:c.3199C>T | XP_016859280.1:p.Arg1067Cys | |
| XM_017003792.1:c.3770C>T | XP_016859281.1:p.Pro1257Leu | |
| XM_017003793.1:c.2017C>T | XP_016859282.1:p.Arg673Cys | |
| XM_017003794.1:c.2017C>T | XP_016859283.1:p.Arg673Cys | |
| XM_017003795.1:c.1813C>T | XP_016859284.1:p.Arg605Cys | |
| XR_001738698.1:n.3825C>T | ||
| NM_015662.3:c.3880C>T MANE Select | NP_056477.1:p.Arg1294Cys |