Linked Data
ClinVar Variation Id:
37058
dbSNP Id:
rs387907273
ExAC:
10:97442533 G / A
gnomAD v2:
10-97442533-G-A
gnomAD v3:
10-95682776-G-A
gnomAD v4:
10-95682776-G-A
PubMed:
PMID:22883145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95682776G>A , CM000672.2:g.95682776G>A | GRCh38 |
| NC_000010.10:g.97442533G>A , CM000672.1:g.97442533G>A | GRCh37 |
| NC_000010.9:g.97432523G>A | NCBI36 |
| NG_032953.1:g.16368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371217.10:c.1327C>T MANE Select | ENSP00000360261.5:p.Gln443Ter | |
| ENST00000614499.5:c.1366C>T | ENSP00000483364.2:p.Gln456Ter | |
| ENST00000679485.1:n.1351C>T | ||
| ENST00000679984.1:c.*567C>T | ENSP00000504998.1:n.*567C>T | |
| ENST00000680144.1:c.1231C>T | ENSP00000506398.1:p.Gln411Ter | |
| ENST00000680353.1:c.1203+746C>T | ENSP00000505367.1:n.1203+746C>T | |
| ENST00000680697.1:n.1522C>T | ||
| ENST00000680709.1:c.1075C>T | ENSP00000505830.1:p.Gln359Ter | |
| ENST00000681739.1:n.1708C>T | ||
| ENST00000681928.1:c.*130+4268C>T | ENSP00000505552.1:n.*130+4268C>T | |
| ENST00000265993.13:c.1381C>T | ENSP00000265993.9:p.Gln461Ter | |
| ENST00000371217.9:c.1327C>T | ENSP00000360261.5:p.Gln443Ter | |
| ENST00000430368.6:c.883C>T | ENSP00000387567.1:p.Gln295Ter | |
| ENST00000614499.4:c.1327C>T | ENSP00000483364.1:p.Gln443Ter | |
| NM_001143973.1:c.883C>T | NP_001137445.1:p.Gln295Ter | |
| NM_015631.5:c.1327C>T | NP_056446.4:p.Gln443Ter | |
| XM_005269690.1:c.1300C>T | XP_005269747.1:p.Gln434Ter | |
| XM_011539627.1:c.1366C>T | XP_011537929.1:p.Gln456Ter | |
| XM_011539628.1:c.1381C>T | XP_011537930.1:p.Gln461Ter | |
| XM_005269690.2:c.1300C>T | XP_005269747.1:p.Gln434Ter | |
| XM_011539627.2:c.1366C>T | XP_011537929.1:p.Gln456Ter | |
| XM_011539628.2:c.1381C>T | XP_011537930.1:p.Gln461Ter | |
| XM_024447935.1:c.1285C>T | XP_024303703.1:p.Gln429Ter | |
| NM_015631.6:c.1327C>T MANE Select | NP_056446.4:p.Gln443Ter | |
| NM_001143973.2:c.883C>T | NP_001137445.1:p.Gln295Ter |