Linked Data
ClinVar Variation Id:
344306
dbSNP Id:
rs78726268
ExAC:
3:182755101 C / T
gnomAD v2:
3-182755101-C-T
gnomAD v3:
3-183037313-C-T
gnomAD v4:
3-183037313-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183037313C>T , CM000665.2:g.183037313C>T | GRCh38 |
| NC_000003.11:g.182755101C>T , CM000665.1:g.182755101C>T | GRCh37 |
| NC_000003.10:g.184237795C>T | NCBI36 |
| NG_008100.1:g.67265G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265594.9:c.1499G>A MANE Select | ENSP00000265594.4:p.Arg500Gln | |
| ENST00000265594.8:c.1499G>A | ENSP00000265594.4:p.Arg500Gln | |
| ENST00000476176.5:c.1358G>A | ENSP00000420433.1:p.Arg453Gln | |
| ENST00000489909.1:n.43G>A | ||
| ENST00000492597.5:c.1172G>A | ENSP00000419898.1:p.Arg391Gln | |
| ENST00000495767.5:c.*1080G>A | ENSP00000419658.1:n.*1080G>A | |
| ENST00000497830.5:c.*1096G>A | ENSP00000420088.1:n.*1096G>A | |
| ENST00000497959.5:c.1263+1713G>A | ENSP00000420648.1:n.1263+1713G>A | |
| ENST00000539926.5:c.1049G>A | ENSP00000441253.2:p.Arg350Gln | |
| ENST00000610757.4:c.1049G>A | ENSP00000480435.1:p.Arg350Gln | |
| ENST00000629669.2:c.1263+1713G>A | ENSP00000486824.1:n.1263+1713G>A | |
| NM_001293273.1:c.1148G>A | NP_001280202.1:p.Arg383Gln | |
| NM_020166.4:c.1499G>A | NP_064551.3:p.Arg500Gln | |
| NR_120639.1:n.1413G>A | ||
| NR_120640.1:n.2044+1713G>A | ||
| XM_006713702.1:c.1172G>A | XP_006713765.1:p.Arg391Gln | |
| XM_011512992.1:c.1385G>A | XP_011511294.1:p.Arg462Gln | |
| XM_011512993.1:c.1377+1713G>A | XP_011511295.1:n.1377+1713G>A | |
| XR_241502.2:n.1524+1713G>A | ||
| XR_924159.1:n.1646G>A | ||
| NM_001363880.1:c.1172G>A | NP_001350809.1:p.Arg391Gln | |
| XM_011512992.2:c.1385G>A | XP_011511294.1:p.Arg462Gln | |
| XR_001740207.2:n.1622G>A | ||
| XR_001740208.2:n.1622G>A | ||
| XR_001740209.2:n.1470+1713G>A | ||
| XR_001740210.1:n.1452G>A | ||
| XR_002959553.1:n.1622G>A | ||
| XR_002959554.1:n.1500+1713G>A | ||
| XR_241502.3:n.1470+1713G>A | ||
| NM_020166.5:c.1499G>A MANE Select | NP_064551.3:p.Arg500Gln | |
| NM_001293273.2:c.1148G>A | NP_001280202.1:p.Arg383Gln | |
| NR_120639.2:n.1322G>A | ||
| NR_120640.2:n.2044+1713G>A |