Linked Data
ClinVar Variation Id:
384687
dbSNP Id:
rs17792974
ExAC:
12:8975901 C / T
gnomAD v2:
12-8975901-C-T
gnomAD v3:
12-8823305-C-T
gnomAD v4:
12-8823305-C-T
PubMed:
PMID:24896146
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8823305C>T , CM000674.2:g.8823305C>T | GRCh38 |
| NC_000012.11:g.8975901C>T , CM000674.1:g.8975901C>T | GRCh37 |
| NC_000012.10:g.8867168C>T | NCBI36 |
| NG_042857.1:g.5834C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299698.12:c.186C>T MANE Select | ENSP00000299698.7:p.Thr62= | |
| ENST00000299698.11:c.186C>T | ENSP00000299698.7:p.Thr62= | |
| NM_144670.4:c.186C>T | NP_653271.2:p.Thr62= | |
| NM_144670.5:c.186C>T | NP_653271.2:p.Thr62= | |
| XM_011520566.1:c.186C>T | XP_011518868.1:p.Thr62= | |
| XM_011520567.1:c.186C>T | XP_011518869.1:p.Thr62= | |
| XR_931275.1:n.284C>T | ||
| XM_011520566.2:c.186C>T | XP_011518868.1:p.Thr62= | |
| XM_011520567.2:c.186C>T | XP_011518869.1:p.Thr62= | |
| XM_017018868.1:c.186C>T | XP_016874357.1:p.Thr62= | |
| XM_017018869.1:c.186C>T | XP_016874358.1:p.Thr62= | |
| XM_017018870.1:c.186C>T | XP_016874359.1:p.Thr62= | |
| XR_001748594.1:n.284C>T | ||
| NM_144670.6:c.186C>T MANE Select | NP_653271.3:p.Thr62= |