Linked Data
ClinVar Variation Id:
2877
dbSNP Id:
rs28362286
ExAC:
1:55529215 C / A
gnomAD v2:
1-55529215-C-A
gnomAD v3:
1-55063542-C-A
gnomAD v4:
1-55063542-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063542C>A , CM000663.2:g.55063542C>A | GRCh38 |
| NC_000001.10:g.55529215C>A , CM000663.1:g.55529215C>A | GRCh37 |
| NC_000001.9:g.55301803C>A | NCBI36 |
| NG_009061.1:g.28996C>A , LRG_275:g.28996C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673913.2:c.*377C>A | ENSP00000501161.2:n.*377C>A | |
| ENST00000710286.1:c.2394C>A | ENSP00000518176.1:p.Cys798Ter | |
| ENST00000673903.1:c.1662C>A | ENSP00000501257.1:p.Cys554Ter | |
| ENST00000302118.5:c.2037C>A MANE Select | ENSP00000303208.5:p.Cys679Ter | |
| ENST00000490692.1:n.2583C>A | ||
| NM_174936.3:c.2037C>A , LRG_275t1:c.2037C>A | NP_777596.2:p.Cys679Ter | |
| NR_110451.1:n.1644C>A | ||
| XM_011541193.1:c.1158C>A | XP_011539495.1:p.Cys386Ter | |
| NM_174936.4:c.2037C>A MANE Select | NP_777596.2:p.Cys679Ter | |
| NR_110451.2:n.1644C>A |