Linked Data
ClinVar Variation Id:
2084935
ClinVar RCV Id:
RCV003011395
dbSNP Id:
rs773007457
gnomAD v2:
16-14029422-G-C
gnomAD v3:
16-13935565-G-C
gnomAD v4:
16-13935565-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13935565G>C , CM000678.2:g.13935565G>C | GRCh38 |
| NC_000016.9:g.14029422G>C , CM000678.1:g.14029422G>C | GRCh37 |
| NC_000016.8:g.13936923G>C | NCBI36 |
| NG_011442.1:g.20409G>C , LRG_463:g.20409G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682568.1:n.1711G>C | ||
| ENST00000682617.1:c.1771G>C | ENSP00000507912.1:p.Gly591Arg | |
| ENST00000682826.1:c.*947G>C | ENSP00000507274.1:n.*947G>C | |
| ENST00000682909.1:n.3673G>C | ||
| ENST00000683277.1:n.3278G>C | ||
| ENST00000683407.1:n.1641G>C | ||
| ENST00000683962.1:c.*1327G>C | ENSP00000506854.1:n.*1327G>C | |
| ENST00000311895.8:c.1633G>C MANE Select | ENSP00000310520.7:p.Gly545Arg | |
| ENST00000311895.7:c.1633G>C | ENSP00000310520.7:p.Gly545Arg | |
| ENST00000389138.7:n.910G>C | ||
| NM_005236.2:c.1633G>C , LRG_463t1:c.1633G>C | NP_005227.1:p.Gly545Arg | |
| XM_011522424.1:c.1771G>C | XP_011520726.1:p.Gly591Arg | |
| XM_011522425.1:c.1090G>C | XP_011520727.1:p.Gly364Arg | |
| XM_011522426.1:c.844G>C | XP_011520728.1:p.Gly282Arg | |
| XM_011522427.1:c.283G>C | XP_011520729.1:p.Gly95Arg | |
| XR_932805.1:n.1792G>C | ||
| XM_011522424.3:c.1771G>C | XP_011520726.1:p.Gly591Arg | |
| XM_017023043.2:c.844G>C | XP_016878532.1:p.Gly282Arg | |
| NM_005236.3:c.1633G>C MANE Select | NP_005227.1:p.Gly545Arg |