Linked Data
ClinVar Variation Id:
1116868
ClinVar RCV Id:
RCV001445425
dbSNP Id:
rs1713855580
MyVariant Identifiers:
chr3:g.182756874C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183039086C>T , CM000665.2:g.183039086C>T | GRCh38 |
| NC_000003.11:g.182756874C>T , CM000665.1:g.182756874C>T | GRCh37 |
| NC_000003.10:g.184239568C>T | NCBI36 |
| NG_008100.1:g.65492G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265594.9:c.1317G>A MANE Select | ENSP00000265594.4:p.Val439= | |
| ENST00000265594.8:c.1317G>A | ENSP00000265594.4:p.Val439= | |
| ENST00000476176.5:c.1176G>A | ENSP00000420433.1:p.Val392= | |
| ENST00000492597.5:c.990G>A | ENSP00000419898.1:p.Val330= | |
| ENST00000495767.5:c.*898G>A | ENSP00000419658.1:n.*898G>A | |
| ENST00000497830.5:c.*914G>A | ENSP00000420088.1:n.*914G>A | |
| ENST00000497959.5:c.1203G>A | ENSP00000420648.1:p.Val401= | |
| ENST00000539926.5:c.867G>A | ENSP00000441253.2:p.Val289= | |
| ENST00000610757.4:c.867G>A | ENSP00000480435.1:p.Val289= | |
| ENST00000629669.2:c.1203G>A | ENSP00000486824.1:p.Val401= | |
| NM_001293273.1:c.966G>A | NP_001280202.1:p.Val322= | |
| NM_020166.4:c.1317G>A | NP_064551.3:p.Val439= | |
| NR_120639.1:n.1231G>A | ||
| NR_120640.1:n.1984G>A | ||
| XM_006713702.1:c.990G>A | XP_006713765.1:p.Val330= | |
| XM_011512992.1:c.1203G>A | XP_011511294.1:p.Val401= | |
| XM_011512993.1:c.1317G>A | XP_011511295.1:p.Val439= | |
| XR_241502.2:n.1464G>A | ||
| XR_924159.1:n.1464G>A | ||
| NM_001363880.1:c.990G>A | NP_001350809.1:p.Val330= | |
| XM_011512992.2:c.1203G>A | XP_011511294.1:p.Val401= | |
| XR_001740207.2:n.1440G>A | ||
| XR_001740208.2:n.1440G>A | ||
| XR_001740209.2:n.1410G>A | ||
| XR_001740210.1:n.1270G>A | ||
| XR_002959553.1:n.1440G>A | ||
| XR_002959554.1:n.1440G>A | ||
| XR_241502.3:n.1410G>A | ||
| NM_020166.5:c.1317G>A MANE Select | NP_064551.3:p.Val439= | |
| NM_001293273.2:c.966G>A | NP_001280202.1:p.Val322= | |
| NR_120639.2:n.1140G>A | ||
| NR_120640.2:n.1984G>A |