Linked Data
ClinVar Variation Id:
282683
dbSNP Id:
rs146291186
ExAC:
2:238287801 G / A
gnomAD v2:
2-238287801-G-A
gnomAD v3:
2-237379158-G-A
gnomAD v4:
2-237379158-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237379158G>A , CM000664.2:g.237379158G>A | GRCh38 |
| NC_000002.11:g.238287801G>A , CM000664.1:g.238287801G>A | GRCh37 |
| NC_000002.10:g.237952540G>A | NCBI36 |
| NG_008676.1:g.40050C>T , LRG_473:g.40050C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.1357C>T | ENSP00000315873.4:p.Arg453Cys | |
| ENST00000295550.9:c.1975C>T MANE Select | ENSP00000295550.4:p.Arg659Cys | |
| ENST00000295550.8:c.1975C>T | ENSP00000295550.4:p.Arg659Cys | |
| ENST00000347401.7:c.676+1757C>T | ENSP00000315609.4:n.676+1757C>T | |
| ENST00000353578.8:c.1357C>T | ENSP00000315873.4:p.Arg453Cys | |
| ENST00000392003.6:c.754C>T | ENSP00000375860.2:p.Arg252Cys | |
| ENST00000392004.7:c.1357C>T | ENSP00000375861.3:p.Arg453Cys | |
| ENST00000409809.5:c.1357C>T | ENSP00000386844.1:p.Arg453Cys | |
| ENST00000433762.1:c.1897+1757C>T | ENSP00000389539.1:n.1897+1757C>T | |
| ENST00000472056.5:c.676+1757C>T | ENSP00000418285.1:n.676+1757C>T | |
| NM_004369.3:c.1975C>T , LRG_473t1:c.1975C>T | NP_004360.2:p.Arg659Cys | |
| NM_057164.4:c.754C>T | NP_476505.3:p.Arg252Cys | |
| NM_057165.4:c.1357C>T | NP_476506.3:p.Arg453Cys | |
| NM_057166.4:c.676+1757C>T | NP_476507.3:n.676+1757C>T | |
| NM_057167.3:c.1357C>T | NP_476508.2:p.Arg453Cys | |
| XM_005246065.1:c.1897+1757C>T | XP_005246122.1:n.1897+1757C>T | |
| XM_005246066.1:c.754C>T | XP_005246123.1:p.Arg252Cys | |
| XM_006712253.1:c.1975C>T | XP_006712316.1:p.Arg659Cys | |
| XM_011510574.1:c.1975C>T | XP_011508876.1:p.Arg659Cys | |
| XM_011510575.1:c.92-1814C>T | XP_011508877.1:n.92-1814C>T | |
| XM_017003304.1:c.92-1814C>T | XP_016858793.1:n.92-1814C>T | |
| XM_024452684.1:c.754C>T | XP_024308452.1:p.Arg252Cys | |
| NM_004369.4:c.1975C>T MANE Select | NP_004360.2:p.Arg659Cys | |
| NM_057164.5:c.754C>T | NP_476505.3:p.Arg252Cys | |
| NM_057165.5:c.1357C>T | NP_476506.3:p.Arg453Cys | |
| NM_057166.5:c.676+1757C>T | NP_476507.3:n.676+1757C>T | |
| NM_057167.4:c.1357C>T | NP_476508.2:p.Arg453Cys |