Linked Data
ClinVar Variation Id:
7643
ClinVar RCV Id:
RCV000008082
dbSNP Id:
rs121434461
ExAC:
3:145789203 C / T
gnomAD v2:
3-145789203-C-T
gnomAD v3:
3-146071416-C-T
gnomAD v4:
3-146071416-C-T
PubMed:
PMID:15523624
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.146071416C>T , CM000665.2:g.146071416C>T | GRCh38 |
| NC_000003.11:g.145789203C>T , CM000665.1:g.145789203C>T | GRCh37 |
| NC_000003.10:g.147271893C>T | NCBI36 |
| NG_009251.1:g.95080G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000469350.6:c.1709G>A | ENSP00000419963.2:p.Arg570His | |
| ENST00000480704.2:c.*1620G>A | ENSP00000419880.1:n.*1620G>A | |
| ENST00000703517.1:n.579+31339G>A | ||
| ENST00000703518.1:c.1856G>A | ENSP00000515350.1:p.Arg619His | |
| ENST00000703519.1:n.1873G>A | ||
| ENST00000703520.1:c.*270G>A | ENSP00000515351.1:n.*270G>A | |
| ENST00000703521.1:c.*1208G>A | ENSP00000515352.1:n.*1208G>A | |
| ENST00000703522.1:c.1856G>A | ENSP00000515353.1:p.Arg619His | |
| ENST00000703523.1:c.1793G>A | ENSP00000515354.1:p.Arg598His | |
| ENST00000703524.1:n.1676G>A | ||
| ENST00000703525.1:n.4208G>A | ||
| ENST00000703526.1:n.1224G>A | ||
| ENST00000703527.1:c.1856G>A | ENSP00000515355.1:p.Arg619His | |
| ENST00000703528.1:c.1440-1322G>A | ENSP00000515356.1:n.1440-1322G>A | |
| ENST00000706626.1:c.1679G>A | ENSP00000516472.1:p.Arg560His | |
| ENST00000706631.1:n.2301G>A | ||
| ENST00000706632.1:n.720G>A | ||
| ENST00000706633.1:n.2828G>A | ||
| ENST00000706634.1:n.3017G>A | ||
| ENST00000706635.1:c.1688G>A | ENSP00000516475.1:p.Arg563His | |
| ENST00000706636.1:c.*1145G>A | ENSP00000516476.1:n.*1145G>A | |
| ENST00000282903.10:c.1856G>A MANE Select | ENSP00000282903.5:p.Arg619His | |
| ENST00000282903.9:c.1856G>A | ENSP00000282903.5:p.Arg619His | |
| ENST00000360060.7:c.1793G>A | ENSP00000353170.3:p.Arg598His | |
| ENST00000461497.5:c.836G>A | ENSP00000419354.1:p.Arg279His | |
| ENST00000494950.5:c.1691G>A | ENSP00000420094.1:p.Arg564His | |
| NM_000935.2:c.1793G>A | NP_000926.2:p.Arg598His | |
| NM_182943.2:c.1856G>A | NP_891988.1:p.Arg619His | |
| XM_005247535.3:c.1580G>A | XP_005247592.1:p.Arg527His | |
| XM_005247535.4:c.1580G>A | XP_005247592.1:p.Arg527His | |
| XM_017006625.2:c.1580G>A | XP_016862114.1:p.Arg527His | |
| XM_024453599.1:c.1517G>A | XP_024309367.1:p.Arg506His | |
| XR_001740176.2:n.2124G>A | ||
| NM_182943.3:c.1856G>A MANE Select | NP_891988.1:p.Arg619His | |
| NM_000935.3:c.1793G>A | NP_000926.2:p.Arg598His |