Linked Data
ClinVar Variation Id:
595717
ClinVar RCV Id:
RCV000731348
dbSNP Id:
rs911038793
gnomAD v4:
14-77301241-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77301241G>C , CM000676.2:g.77301241G>C | GRCh38 |
| NC_000014.8:g.77767584G>C , CM000676.1:g.77767584G>C | GRCh37 |
| NC_000014.7:g.76837337G>C | NCBI36 |
| NG_008897.1:g.24642C>G , LRG_844:g.24642C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553863.6:c.118C>G | ENSP00000508202.1:p.Leu40Val | |
| ENST00000556394.2:c.358-1680C>G | ENSP00000451967.2:n.358-1680C>G | |
| ENST00000556880.6:n.689C>G | ||
| ENST00000557289.2:c.9C>G | ||
| ENST00000682247.1:c.665C>G | ENSP00000507213.1:p.Ser222Cys | |
| ENST00000682382.1:c.496-2470C>G | ||
| ENST00000682395.1:n.394C>G | ||
| ENST00000682459.1:n.329C>G | ||
| ENST00000682467.1:c.665C>G | ENSP00000508062.1:p.Ser222Cys | |
| ENST00000682795.1:c.665C>G | ENSP00000507574.1:p.Ser222Cys | |
| ENST00000682895.1:n.381C>G | ||
| ENST00000682955.1:n.212-2470C>G | ||
| ENST00000683167.1:c.9C>G | ||
| ENST00000683188.1:c.343-1680C>G | ||
| ENST00000683300.1:c.109+3451C>G | ENSP00000507630.1:n.109+3451C>G | |
| ENST00000683328.1:c.109+3451C>G | ENSP00000508096.1:n.109+3451C>G | |
| ENST00000683380.1:n.329C>G | ||
| ENST00000683398.1:c.9C>G | ||
| ENST00000683551.1:c.109+1594C>G | ||
| ENST00000683828.1:c.525+1594C>G | ||
| ENST00000684259.1:n.516C>G | ||
| ENST00000684549.1:n.368-1680C>G | ||
| ENST00000684554.1:c.9C>G | ||
| ENST00000261534.9:c.665C>G MANE Select | ENSP00000261534.4:p.Ser222Cys | |
| ENST00000261534.8:c.665C>G | ENSP00000261534.4:p.Ser222Cys | |
| ENST00000452340.7:n.688C>G | ||
| ENST00000553863.5:n.329C>G | ||
| ENST00000554948.1:c.392C>G | ENSP00000452060.1:p.Ser131Cys | |
| ENST00000555675.5:n.381C>G | ||
| ENST00000556326.5:c.*331C>G | ENSP00000450630.1:n.*331C>G | |
| ENST00000557289.1:c.56-1680C>G | ENSP00000451115.1:n.56-1680C>G | |
| NM_013382.5:c.665C>G , LRG_844t1:c.665C>G | NP_037514.2:p.Ser222Cys | |
| XM_011536675.1:c.665C>G | XP_011534977.1:p.Ser222Cys | |
| XM_011536676.1:c.332C>G | XP_011534978.1:p.Ser111Cys | |
| XM_011536677.1:c.547+3451C>G | XP_011534979.1:n.547+3451C>G | |
| XM_011536678.1:c.665C>G | XP_011534980.1:p.Ser222Cys | |
| XM_011536679.1:c.-90-1680C>G | XP_011534981.1:n.-90-1680C>G | |
| XM_011536680.1:c.665C>G | XP_011534982.1:p.Ser222Cys | |
| XR_943416.1:n.868C>G | ||
| XM_011536675.2:c.665C>G | XP_011534977.1:p.Ser222Cys | |
| XM_011536676.2:c.332C>G | XP_011534978.1:p.Ser111Cys | |
| XM_011536677.3:c.547+3451C>G | XP_011534979.1:n.547+3451C>G | |
| XR_001750279.1:n.865C>G | ||
| XR_001750282.1:n.869C>G | ||
| XR_943416.3:n.866C>G | ||
| NM_013382.6:c.665C>G | NP_037514.2:p.Ser222Cys | |
| NM_013382.7:c.665C>G MANE Select | NP_037514.2:p.Ser222Cys |