Linked Data
ClinVar Variation Id:
2879445
ClinVar RCV Id:
RCV003606599
dbSNP Id:
rs28362286
ExAC:
1:55529215 C / T
gnomAD v4:
1-55063542-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063542C>T , CM000663.2:g.55063542C>T | GRCh38 |
| NC_000001.10:g.55529215C>T , CM000663.1:g.55529215C>T | GRCh37 |
| NC_000001.9:g.55301803C>T | NCBI36 |
| NG_009061.1:g.28996C>T , LRG_275:g.28996C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673913.2:c.*377C>T | ENSP00000501161.2:n.*377C>T | |
| ENST00000710286.1:c.2394C>T | ENSP00000518176.1:p.Cys798= | |
| ENST00000673903.1:c.1662C>T | ENSP00000501257.1:p.Cys554= | |
| ENST00000302118.5:c.2037C>T MANE Select | ENSP00000303208.5:p.Cys679= | |
| ENST00000490692.1:n.2583C>T | ||
| NM_174936.3:c.2037C>T , LRG_275t1:c.2037C>T | NP_777596.2:p.Cys679= | |
| NR_110451.1:n.1644C>T | ||
| XM_011541193.1:c.1158C>T | XP_011539495.1:p.Cys386= | |
| NM_174936.4:c.2037C>T MANE Select | NP_777596.2:p.Cys679= | |
| NR_110451.2:n.1644C>T |