Linked Data
ClinVar Variation Id:
402986
dbSNP Id:
rs1921
ExAC:
1:949608 G / A
gnomAD v2:
1-949608-G-A
gnomAD v3:
1-1014228-G-A
gnomAD v4:
1-1014228-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014228G>A , CM000663.2:g.1014228G>A | GRCh38 |
| NC_000001.10:g.949608G>A , CM000663.1:g.949608G>A | GRCh37 |
| NC_000001.9:g.939471G>A | NCBI36 |
| NG_033033.1:g.5762G>A | |
| NG_033033.2:g.18091G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.224G>A | ENSP00000485643.1:p.Ser75Asn | |
| ENST00000649529.1:c.248G>A MANE Select | ENSP00000496832.1:p.Ser83Asn | |
| ENST00000379389.4:c.248G>A | ENSP00000368699.4:p.Ser83Asn | |
| ENST00000624652.1:c.224G>A | ENSP00000485313.1:p.Ser75Asn | |
| ENST00000624697.3:c.224G>A | ENSP00000485643.1:p.Ser75Asn | |
| NM_005101.3:c.248G>A | NP_005092.1:p.Ser83Asn | |
| NM_005101.4:c.248G>A MANE Select | NP_005092.1:p.Ser83Asn |