Linked Data
ClinVar Variation Id:
1781804
dbSNP Id:
rs766081343
gnomAD v2:
1-55529055-G-C
gnomAD v4:
1-55063382-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063382G>C , CM000663.2:g.55063382G>C | GRCh38 |
| NC_000001.10:g.55529055G>C , CM000663.1:g.55529055G>C | GRCh37 |
| NC_000001.9:g.55301643G>C | NCBI36 |
| NG_009061.1:g.28836G>C , LRG_275:g.28836G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*217G>C | ENSP00000501161.2:n.*217G>C | |
| ENST00000710286.1:c.2234G>C | ENSP00000518176.1:p.Cys745Ser | |
| ENST00000673903.1:c.1502G>C | ENSP00000501257.1:p.Cys501Ser | |
| ENST00000673913.1:c.727G>C | ENSP00000501161.1:n.727G>C | |
| ENST00000302118.5:c.1877G>C MANE Select | ENSP00000303208.5:p.Cys626Ser | |
| ENST00000490692.1:n.2423G>C | ||
| NM_174936.3:c.1877G>C , LRG_275t1:c.1877G>C | NP_777596.2:p.Cys626Ser | |
| NR_110451.1:n.1484G>C | ||
| XM_011541193.1:c.998G>C | XP_011539495.1:p.Cys333Ser | |
| NM_174936.4:c.1877G>C MANE Select | NP_777596.2:p.Cys626Ser | |
| NR_110451.2:n.1484G>C |