Linked Data
ClinVar Variation Id:
1529859
ClinVar RCV Id:
RCV002097127
dbSNP Id:
rs776423329
ExAC:
11:57381946 C / T
gnomAD v2:
11-57381946-C-T
gnomAD v3:
11-57614473-C-T
gnomAD v4:
11-57614473-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57614473C>T , CM000673.2:g.57614473C>T | GRCh38 |
| NC_000011.9:g.57381946C>T , CM000673.1:g.57381946C>T | GRCh37 |
| NC_000011.8:g.57138522C>T | NCBI36 |
| NG_009625.1:g.21920C>T , LRG_105:g.21920C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.1395C>T MANE Select | ENSP00000278407.4:p.Ala465= | |
| ENST00000528996.2:c.*292C>T | ENSP00000431226.2:n.*292C>T | |
| ENST00000531605.2:c.*1171C>T | ENSP00000503752.1:n.*1171C>T | |
| ENST00000619430.2:c.1191C>T | ENSP00000478572.2:p.Ala397= | |
| ENST00000676670.1:c.1395C>T | ENSP00000504807.1:p.Ala465= | |
| ENST00000676741.1:n.2477C>T | ||
| ENST00000677624.1:c.*815C>T | ENSP00000503979.1:n.*815C>T | |
| ENST00000677625.1:c.1341C>T | ENSP00000502857.1:p.Ala447= | |
| ENST00000677856.1:n.1648C>T | ||
| ENST00000677915.1:c.*292C>T | ENSP00000503118.1:n.*292C>T | |
| ENST00000678533.1:c.*949C>T | ENSP00000503873.1:n.*949C>T | |
| ENST00000678592.1:c.*335C>T | ENSP00000504424.1:n.*335C>T | |
| ENST00000278407.8:c.1395C>T | ENSP00000278407.4:p.Ala465= | |
| ENST00000340687.10:c.1284C>T | ENSP00000341861.6:p.Ala428= | |
| ENST00000378323.8:c.1410C>T | ENSP00000367574.4:p.Ala470= | |
| ENST00000378324.6:c.1239C>T | ENSP00000367575.2:p.Ala413= | |
| ENST00000403558.1:c.1524C>T | ENSP00000384420.1:p.Ala508= | |
| ENST00000528996.1:c.596C>T | ENSP00000431226.1:n.596C>T | |
| ENST00000530113.1:n.852C>T | ||
| ENST00000531133.5:c.896C>T | ENSP00000435431.1:n.896C>T | |
| ENST00000531797.5:c.*420C>T | ENSP00000432554.1:n.*420C>T | |
| ENST00000619430.1:c.526C>T | ENSP00000478572.1:n.526C>T | |
| NM_000062.2:c.1395C>T , LRG_105t1:c.1395C>T | NP_000053.2:p.Ala465= | |
| NM_001032295.1:c.1395C>T | NP_001027466.1:p.Ala465= | |
| NM_000062.3:c.1395C>T MANE Select | NP_000053.2:p.Ala465= | |
| NM_001032295.2:c.1395C>T | NP_001027466.1:p.Ala465= |