Linked Data
ClinVar Variation Id:
7642
ClinVar RCV Id:
RCV000008081
dbSNP Id:
rs121434460
PubMed:
PMID:12881513
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.146071407C>A , CM000665.2:g.146071407C>A | GRCh38 |
| NC_000003.11:g.145789194C>A , CM000665.1:g.145789194C>A | GRCh37 |
| NC_000003.10:g.147271884C>A | NCBI36 |
| NG_009251.1:g.95089G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000469350.6:c.1718G>T | ENSP00000419963.2:p.Gly573Val | |
| ENST00000480704.2:c.*1629G>T | ENSP00000419880.1:n.*1629G>T | |
| ENST00000703517.1:n.579+31348G>T | ||
| ENST00000703518.1:c.1865G>T | ENSP00000515350.1:p.Gly622Val | |
| ENST00000703519.1:n.1882G>T | ||
| ENST00000703520.1:c.*279G>T | ENSP00000515351.1:n.*279G>T | |
| ENST00000703521.1:c.*1217G>T | ENSP00000515352.1:n.*1217G>T | |
| ENST00000703522.1:c.1865G>T | ENSP00000515353.1:p.Gly622Val | |
| ENST00000703523.1:c.1802G>T | ENSP00000515354.1:p.Gly601Val | |
| ENST00000703524.1:n.1685G>T | ||
| ENST00000703525.1:n.4217G>T | ||
| ENST00000703526.1:n.1233G>T | ||
| ENST00000703527.1:c.1865G>T | ENSP00000515355.1:p.Gly622Val | |
| ENST00000703528.1:c.1440-1313G>T | ENSP00000515356.1:n.1440-1313G>T | |
| ENST00000706626.1:c.1688G>T | ENSP00000516472.1:p.Gly563Val | |
| ENST00000706631.1:n.2310G>T | ||
| ENST00000706632.1:n.729G>T | ||
| ENST00000706633.1:n.2837G>T | ||
| ENST00000706634.1:n.3026G>T | ||
| ENST00000706635.1:c.1697G>T | ENSP00000516475.1:p.Gly566Val | |
| ENST00000706636.1:c.*1154G>T | ENSP00000516476.1:n.*1154G>T | |
| ENST00000282903.10:c.1865G>T MANE Select | ENSP00000282903.5:p.Gly622Val | |
| ENST00000282903.9:c.1865G>T | ENSP00000282903.5:p.Gly622Val | |
| ENST00000360060.7:c.1802G>T | ENSP00000353170.3:p.Gly601Val | |
| ENST00000461497.5:c.845G>T | ENSP00000419354.1:p.Gly282Val | |
| ENST00000494950.5:c.1700G>T | ENSP00000420094.1:p.Gly567Val | |
| NM_000935.2:c.1802G>T | NP_000926.2:p.Gly601Val | |
| NM_182943.2:c.1865G>T | NP_891988.1:p.Gly622Val | |
| XM_005247535.3:c.1589G>T | XP_005247592.1:p.Gly530Val | |
| XM_005247535.4:c.1589G>T | XP_005247592.1:p.Gly530Val | |
| XM_017006625.2:c.1589G>T | XP_016862114.1:p.Gly530Val | |
| XM_024453599.1:c.1526G>T | XP_024309367.1:p.Gly509Val | |
| XR_001740176.2:n.2133G>T | ||
| NM_182943.3:c.1865G>T MANE Select | NP_891988.1:p.Gly622Val | |
| NM_000935.3:c.1802G>T | NP_000926.2:p.Gly601Val |