Linked Data
ClinVar Variation Id:
134158
ClinVar RCV Id:
RCV000120831
RCV000651477
RCV001119237
RCV001357601
RCV001294105
RCV002055332
RCV002257433
RCV002515863
dbSNP Id:
rs1800068
ExAC:
16:14029516 G / C
gnomAD v2:
16-14029516-G-C
gnomAD v3:
16-13935659-G-C
gnomAD v4:
16-13935659-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13935659G>C , CM000678.2:g.13935659G>C | GRCh38 |
| NC_000016.9:g.14029516G>C , CM000678.1:g.14029516G>C | GRCh37 |
| NC_000016.8:g.13937017G>C | NCBI36 |
| NG_011442.1:g.20503G>C , LRG_463:g.20503G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682568.1:n.1805G>C | ||
| ENST00000682617.1:c.1865G>C | ENSP00000507912.1:p.Arg622Thr | |
| ENST00000682826.1:c.*1041G>C | ENSP00000507274.1:n.*1041G>C | |
| ENST00000682909.1:n.3767G>C | ||
| ENST00000683277.1:n.3372G>C | ||
| ENST00000683407.1:n.1735G>C | ||
| ENST00000683962.1:c.*1421G>C | ENSP00000506854.1:n.*1421G>C | |
| ENST00000311895.8:c.1727G>C MANE Select | ENSP00000310520.7:p.Arg576Thr | |
| ENST00000311895.7:c.1727G>C | ENSP00000310520.7:p.Arg576Thr | |
| ENST00000389138.7:n.1004G>C | ||
| NM_005236.2:c.1727G>C , LRG_463t1:c.1727G>C | NP_005227.1:p.Arg576Thr | |
| XM_011522424.1:c.1865G>C | XP_011520726.1:p.Arg622Thr | |
| XM_011522425.1:c.1184G>C | XP_011520727.1:p.Arg395Thr | |
| XM_011522426.1:c.938G>C | XP_011520728.1:p.Arg313Thr | |
| XM_011522427.1:c.377G>C | XP_011520729.1:p.Arg126Thr | |
| XR_932805.1:n.1886G>C | ||
| XM_011522424.3:c.1865G>C | XP_011520726.1:p.Arg622Thr | |
| XM_017023043.2:c.938G>C | XP_016878532.1:p.Arg313Thr | |
| NM_005236.3:c.1727G>C MANE Select | NP_005227.1:p.Arg576Thr |