Linked Data
ClinVar Variation Id:
134142
ClinVar RCV Id:
RCV000120815
RCV000463526
RCV001121237
RCV001354835
RCV001332584
RCV001788036
RCV002257430
RCV002515860
RCV003915202
dbSNP Id:
rs1800069
ExAC:
16:14041570 T / C
gnomAD v2:
16-14041570-T-C
gnomAD v3:
16-13947713-T-C
gnomAD v4:
16-13947713-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947713T>C , CM000678.2:g.13947713T>C | GRCh38 |
| NC_000016.9:g.14041570T>C , CM000678.1:g.14041570T>C | GRCh37 |
| NC_000016.8:g.13949071T>C | NCBI36 |
| NG_011442.1:g.32557T>C , LRG_463:g.32557T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2255T>C | ENSP00000507912.1:p.Ile752Thr | |
| ENST00000683962.1:c.*1811T>C | ENSP00000506854.1:n.*1811T>C | |
| ENST00000311895.8:c.2117T>C MANE Select | ENSP00000310520.7:p.Ile706Thr | |
| ENST00000311895.7:c.2117T>C | ENSP00000310520.7:p.Ile706Thr | |
| ENST00000389138.7:n.1394T>C | ||
| ENST00000462862.1:c.430T>C | ENSP00000461322.1:n.430T>C | |
| NM_005236.2:c.2117T>C , LRG_463t1:c.2117T>C | NP_005227.1:p.Ile706Thr | |
| XM_011522424.1:c.2255T>C | XP_011520726.1:p.Ile752Thr | |
| XM_011522425.1:c.1574T>C | XP_011520727.1:p.Ile525Thr | |
| XM_011522426.1:c.1328T>C | XP_011520728.1:p.Ile443Thr | |
| XM_011522427.1:c.767T>C | XP_011520729.1:p.Ile256Thr | |
| XR_932805.1:n.2276T>C | ||
| XM_011522424.3:c.2255T>C | XP_011520726.1:p.Ile752Thr | |
| XM_017023043.2:c.1328T>C | XP_016878532.1:p.Ile443Thr | |
| NM_005236.3:c.2117T>C MANE Select | NP_005227.1:p.Ile706Thr |