Linked Data
ClinVar Variation Id:
2283901
ClinVar RCV Id:
RCV004134507
dbSNP Id:
rs771367971
ExAC:
2:73717395 C / A
gnomAD v2:
2-73717395-C-A
gnomAD v3:
2-73490268-C-A
gnomAD v4:
2-73490268-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490268C>A , CM000664.2:g.73490268C>A | GRCh38 |
| NC_000002.11:g.73717395C>A , CM000664.1:g.73717395C>A | GRCh37 |
| NC_000002.10:g.73570903C>A | NCBI36 |
| NG_011690.1:g.109516C>A , LRG_741:g.109516C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7928C>A | ENSP00000507671.1:p.Ser2643Tyr | |
| ENST00000682801.1:c.7928C>A | ENSP00000507862.1:p.Ser2643Tyr | |
| ENST00000682859.1:c.7928C>A | ENSP00000508222.1:p.Ser2643Tyr | |
| ENST00000683791.1:c.1320C>A | ||
| ENST00000684460.1:c.5380C>A | ||
| ENST00000684548.1:c.7928C>A | ENSP00000507421.1:p.Ser2643Tyr | |
| ENST00000684590.1:c.2375C>A | ENSP00000507376.1:p.Ser792Tyr | |
| ENST00000684656.1:c.5380C>A | ||
| ENST00000613296.6:c.8309C>A MANE Select | ENSP00000482968.1:p.Ser2770Tyr | |
| ENST00000651434.1:c.896-29507C>A | ||
| ENST00000423048.5:c.3030+110C>A | ENSP00000399833.1:n.3030+110C>A | |
| ENST00000484298.5:c.8183C>A | ENSP00000478155.1:p.Ser2728Tyr | |
| ENST00000613296.4:c.8309C>A | ENSP00000482968.1:p.Ser2770Tyr | |
| ENST00000614410.4:c.8309C>A | ENSP00000479094.1:p.Ser2770Tyr | |
| ENST00000620466.4:n.2112C>A | ||
| NM_015120.4:c.8312C>A , LRG_741t1:c.8312C>A | NP_055935.4:p.Ser2771Tyr | |
| NM_001378454.1:c.8309C>A MANE Select | NP_001365383.1:p.Ser2770Tyr |