Linked Data
ClinVar Variation Id:
208618
dbSNP Id:
rs764091969
ExAC:
10:97446263 G / A
gnomAD v2:
10-97446263-G-A
gnomAD v3:
10-95686506-G-A
gnomAD v4:
10-95686506-G-A
PubMed:
PMID:22883145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95686506G>A , CM000672.2:g.95686506G>A | GRCh38 |
| NC_000010.10:g.97446263G>A , CM000672.1:g.97446263G>A | GRCh37 |
| NC_000010.9:g.97436253G>A | NCBI36 |
| NG_032953.1:g.12638C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371217.10:c.877C>T MANE Select | ENSP00000360261.5:p.Gln293Ter | |
| ENST00000614499.5:c.931C>T | ENSP00000483364.2:p.Gln311Ter | |
| ENST00000679485.1:n.901C>T | ||
| ENST00000679566.1:c.852+538C>T | ENSP00000505964.1:n.852+538C>T | |
| ENST00000679984.1:c.*132C>T | ENSP00000504998.1:n.*132C>T | |
| ENST00000680144.1:c.877C>T | ENSP00000506398.1:p.Gln293Ter | |
| ENST00000680353.1:c.877C>T | ENSP00000505367.1:p.Gln293Ter | |
| ENST00000680697.1:n.543-1882C>T | ||
| ENST00000680709.1:c.640C>T | ENSP00000505830.1:p.Gln214Ter | |
| ENST00000681127.1:n.930C>T | ||
| ENST00000681739.1:n.932C>T | ||
| ENST00000681928.1:c.*130+538C>T | ENSP00000505552.1:n.*130+538C>T | |
| ENST00000265993.13:c.931C>T | ENSP00000265993.9:p.Gln311Ter | |
| ENST00000371209.5:c.877C>T | ENSP00000360253.5:p.Gln293Ter | |
| ENST00000371217.9:c.877C>T | ENSP00000360261.5:p.Gln293Ter | |
| ENST00000430368.6:c.640C>T | ENSP00000387567.1:p.Gln214Ter | |
| ENST00000614499.4:c.877C>T | ENSP00000483364.1:p.Gln293Ter | |
| NM_001143973.1:c.640C>T | NP_001137445.1:p.Gln214Ter | |
| NM_015631.5:c.877C>T | NP_056446.4:p.Gln293Ter | |
| XM_005269690.1:c.931C>T | XP_005269747.1:p.Gln311Ter | |
| XM_011539627.1:c.931C>T | XP_011537929.1:p.Gln311Ter | |
| XM_011539628.1:c.931C>T | XP_011537930.1:p.Gln311Ter | |
| XM_005269690.2:c.931C>T | XP_005269747.1:p.Gln311Ter | |
| XM_011539627.2:c.931C>T | XP_011537929.1:p.Gln311Ter | |
| XM_011539628.2:c.931C>T | XP_011537930.1:p.Gln311Ter | |
| XM_024447935.1:c.931C>T | XP_024303703.1:p.Gln311Ter | |
| NM_015631.6:c.877C>T MANE Select | NP_056446.4:p.Gln293Ter | |
| NM_001143973.2:c.640C>T | NP_001137445.1:p.Gln214Ter |