Linked Data
ClinVar Variation Id:
21090
dbSNP Id:
rs460184
gnomAD v2:
1-196716337-T-C
gnomAD v3:
1-196747207-T-C
gnomAD v4:
1-196747207-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747207T>C , CM000663.2:g.196747207T>C | GRCh38 |
| NC_000001.10:g.196716337T>C , CM000663.1:g.196716337T>C | GRCh37 |
| NC_000001.9:g.194982960T>C | NCBI36 |
| NG_007259.1:g.100197T>C , LRG_47:g.100197T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.4618T>C | ||
| ENST00000695970.1:c.3416T>C | ENSP00000512297.1:p.Val1139Ala | |
| ENST00000695971.1:c.3569T>C | ENSP00000512298.1:p.Val1190Ala | |
| ENST00000695972.1:c.*667T>C | ENSP00000512299.1:n.*667T>C | |
| ENST00000695973.1:c.*1954T>C | ENSP00000512300.1:n.*1954T>C | |
| ENST00000695974.1:c.3413T>C | ENSP00000512301.1:p.Val1138Ala | |
| ENST00000695975.1:c.*1717T>C | ENSP00000512302.1:n.*1717T>C | |
| ENST00000695976.1:c.3401T>C | ENSP00000512303.1:p.Val1134Ala | |
| ENST00000695981.1:c.3580+10T>C | ENSP00000512306.1:n.3580+10T>C | |
| ENST00000695984.1:c.1598T>C | ENSP00000512309.1:p.Val533Ala | |
| ENST00000695986.1:c.*3241T>C | ENSP00000512311.1:n.*3241T>C | |
| ENST00000695990.1:n.624T>C | ||
| ENST00000696026.1:c.*1872T>C | ENSP00000512335.1:n.*1872T>C | |
| ENST00000696027.1:c.3584T>C | ENSP00000512336.1:p.Val1195Ala | |
| ENST00000696028.1:c.3518T>C | ENSP00000512337.1:p.Val1173Ala | |
| ENST00000696029.1:c.3584T>C | ENSP00000512338.1:p.Val1195Ala | |
| ENST00000696031.1:c.*3108T>C | ENSP00000512340.1:n.*3108T>C | |
| ENST00000696032.1:c.3580+10T>C | ENSP00000512341.1:n.3580+10T>C | |
| ENST00000696033.1:c.1160-32590T>C | ENSP00000512342.1:n.1160-32590T>C | |
| ENST00000367429.9:c.3590T>C MANE Select | ENSP00000356399.4:p.Val1197Ala | |
| ENST00000367429.8:c.3590T>C | ENSP00000356399.4:p.Val1197Ala | |
| ENST00000466229.5:n.6688T>C | ||
| NM_000186.3:c.3590T>C , LRG_47t1:c.3590T>C | NP_000177.2:p.Val1197Ala | |
| XR_001737134.2:n.3776T>C | ||
| NM_000186.4:c.3590T>C MANE Select | NP_000177.2:p.Val1197Ala |