Linked Data
ClinVar Variation Id:
1745975
dbSNP Id:
rs765651382
ExAC:
2:73828412 T / C
gnomAD v2:
2-73828412-T-C
gnomAD v3:
2-73601285-T-C
gnomAD v4:
2-73601285-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601285T>C , CM000664.2:g.73601285T>C | GRCh38 |
| NC_000002.11:g.73828412T>C , CM000664.1:g.73828412T>C | GRCh37 |
| NC_000002.10:g.73681920T>C | NCBI36 |
| NG_011690.1:g.220533T>C , LRG_741:g.220533T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11582T>C | ENSP00000507671.1:p.Phe3861Ser | |
| ENST00000682801.1:c.11167-900T>C | ENSP00000507862.1:n.11167-900T>C | |
| ENST00000682859.1:c.11582T>C | ENSP00000508222.1:p.Phe3861Ser | |
| ENST00000683791.1:c.4668T>C | ||
| ENST00000684460.1:c.8863T>C | ||
| ENST00000684548.1:c.11582T>C | ENSP00000507421.1:p.Phe3861Ser | |
| ENST00000684590.1:c.6029T>C | ENSP00000507376.1:p.Phe2010Ser | |
| ENST00000684656.1:c.9047T>C | ||
| ENST00000613296.6:c.11963T>C MANE Select | ENSP00000482968.1:p.Phe3988Ser | |
| ENST00000651057.1:c.2117T>C | ENSP00000498504.1:p.Phe706Ser | |
| ENST00000651434.1:c.3319T>C | ||
| ENST00000651750.1:c.1260+404T>C | ||
| ENST00000652487.1:c.3134T>C | ||
| ENST00000464408.3:n.138T>C | ||
| ENST00000484298.5:c.11837T>C | ENSP00000478155.1:p.Phe3946Ser | |
| ENST00000613296.4:c.11963T>C | ENSP00000482968.1:p.Phe3988Ser | |
| ENST00000620466.4:n.5766T>C | ||
| NM_015120.4:c.11966T>C , LRG_741t1:c.11966T>C | NP_055935.4:p.Phe3989Ser | |
| NM_001378454.1:c.11963T>C MANE Select | NP_001365383.1:p.Phe3988Ser |