Linked Data
ClinVar Variation Id:
377135
dbSNP Id:
rs767513098
ExAC:
2:73651614 G / A
gnomAD v2:
2-73651614-G-A
gnomAD v3:
2-73424486-G-A
gnomAD v4:
2-73424486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73424486G>A , CM000664.2:g.73424486G>A | GRCh38 |
| NC_000002.11:g.73651614G>A , CM000664.1:g.73651614G>A | GRCh37 |
| NC_000002.10:g.73505122G>A | NCBI36 |
| NG_011690.1:g.43732G>A , LRG_741:g.43732G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.371G>A | ENSP00000507671.1:p.Ser124Asn | |
| ENST00000682675.1:n.781G>A | ||
| ENST00000682801.1:c.371G>A | ENSP00000507862.1:p.Ser124Asn | |
| ENST00000682859.1:c.371G>A | ENSP00000508222.1:p.Ser124Asn | |
| ENST00000682889.1:n.786G>A | ||
| ENST00000683791.1:c.175G>A | ||
| ENST00000684548.1:c.371G>A | ENSP00000507421.1:p.Ser124Asn | |
| ENST00000613296.6:c.821G>A MANE Select | ENSP00000482968.1:p.Ser274Asn | |
| ENST00000484298.5:c.695G>A | ENSP00000478155.1:p.Ser232Asn | |
| ENST00000613296.4:c.821G>A | ENSP00000482968.1:p.Ser274Asn | |
| ENST00000614410.4:c.821G>A | ENSP00000479094.1:p.Ser274Asn | |
| NM_015120.4:c.824G>A , LRG_741t1:c.824G>A | NP_055935.4:p.Ser275Asn | |
| NM_001378454.1:c.821G>A MANE Select | NP_001365383.1:p.Ser274Asn |