Linked Data
ClinVar Variation Id:
2003599
ClinVar RCV Id:
RCV002811301
gnomAD v4:
3-183037306-A-G
MyVariant Identifiers:
chr3:g.182755094A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183037306A>G , CM000665.2:g.183037306A>G | GRCh38 |
| NC_000003.11:g.182755094A>G , CM000665.1:g.182755094A>G | GRCh37 |
| NC_000003.10:g.184237788A>G | NCBI36 |
| NG_008100.1:g.67272T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265594.9:c.1506T>C MANE Select | ENSP00000265594.4:p.Ala502= | |
| ENST00000265594.8:c.1506T>C | ENSP00000265594.4:p.Ala502= | |
| ENST00000476176.5:c.1365T>C | ENSP00000420433.1:p.Ala455= | |
| ENST00000489909.1:n.50T>C | ||
| ENST00000492597.5:c.1179T>C | ENSP00000419898.1:p.Ala393= | |
| ENST00000495767.5:c.*1087T>C | ENSP00000419658.1:n.*1087T>C | |
| ENST00000497830.5:c.*1103T>C | ENSP00000420088.1:n.*1103T>C | |
| ENST00000497959.5:c.1263+1720T>C | ENSP00000420648.1:n.1263+1720T>C | |
| ENST00000539926.5:c.1056T>C | ENSP00000441253.2:p.Ala352= | |
| ENST00000610757.4:c.1056T>C | ENSP00000480435.1:p.Ala352= | |
| ENST00000629669.2:c.1263+1720T>C | ENSP00000486824.1:n.1263+1720T>C | |
| NM_001293273.1:c.1155T>C | NP_001280202.1:p.Ala385= | |
| NM_020166.4:c.1506T>C | NP_064551.3:p.Ala502= | |
| NR_120639.1:n.1420T>C | ||
| NR_120640.1:n.2044+1720T>C | ||
| XM_006713702.1:c.1179T>C | XP_006713765.1:p.Ala393= | |
| XM_011512992.1:c.1392T>C | XP_011511294.1:p.Ala464= | |
| XM_011512993.1:c.1377+1720T>C | XP_011511295.1:n.1377+1720T>C | |
| XR_241502.2:n.1524+1720T>C | ||
| XR_924159.1:n.1653T>C | ||
| NM_001363880.1:c.1179T>C | NP_001350809.1:p.Ala393= | |
| XM_011512992.2:c.1392T>C | XP_011511294.1:p.Ala464= | |
| XR_001740207.2:n.1629T>C | ||
| XR_001740208.2:n.1629T>C | ||
| XR_001740209.2:n.1470+1720T>C | ||
| XR_001740210.1:n.1459T>C | ||
| XR_002959553.1:n.1629T>C | ||
| XR_002959554.1:n.1500+1720T>C | ||
| XR_241502.3:n.1470+1720T>C | ||
| NM_020166.5:c.1506T>C MANE Select | NP_064551.3:p.Ala502= | |
| NM_001293273.2:c.1155T>C | NP_001280202.1:p.Ala385= | |
| NR_120639.2:n.1329T>C | ||
| NR_120640.2:n.2044+1720T>C |