Linked Data
ClinVar Variation Id:
1060596
dbSNP Id:
rs749704215
ExAC:
3:10188290 C / G
gnomAD v2:
3-10188290-C-G
gnomAD v4:
3-10146606-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146606C>G , CM000665.2:g.10146606C>G | GRCh38 |
| NC_000003.11:g.10188290C>G , CM000665.1:g.10188290C>G | GRCh37 |
| NC_000003.10:g.10163290C>G | NCBI36 |
| NG_008212.3:g.9972C>G , LRG_322:g.9972C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*110C>G | ENSP00000512434.1:n.*110C>G | |
| ENST00000696143.1:c.600-3181C>G | ENSP00000512435.1:n.600-3181C>G | |
| ENST00000696153.1:c.433C>G | ENSP00000512444.1:p.Gln145Glu | |
| ENST00000256474.3:c.433C>G MANE Select | ENSP00000256474.3:p.Gln145Glu | |
| ENST00000256474.2:c.433C>G | ENSP00000256474.2:p.Gln145Glu | |
| ENST00000345392.2:c.341-3181C>G | ENSP00000344757.2:n.341-3181C>G | |
| ENST00000477538.1:n.569C>G | ||
| NM_000551.3:c.433C>G , LRG_322t1:c.433C>G | NP_000542.1:p.Gln145Glu | |
| NM_198156.2:c.341-3181C>G | NP_937799.1:n.341-3181C>G | |
| NM_001354723.1:c.*18-3181C>G | NP_001341652.1:n.*18-3181C>G | |
| NM_000551.4:c.433C>G MANE Select | NP_000542.1:p.Gln145Glu | |
| NM_001354723.2:c.*18-3181C>G | NP_001341652.1:n.*18-3181C>G | |
| NM_198156.3:c.341-3181C>G | NP_937799.1:n.341-3181C>G |