Linked Data
ClinVar Variation Id:
384194
dbSNP Id:
rs569725936
ExAC:
16:88902631 T / C
gnomAD v2:
16-88902631-T-C
gnomAD v3:
16-88836223-T-C
gnomAD v4:
16-88836223-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88836223T>C , CM000678.2:g.88836223T>C | GRCh38 |
| NC_000016.9:g.88902631T>C , CM000678.1:g.88902631T>C | GRCh37 |
| NC_000016.8:g.87430132T>C | NCBI36 |
| NG_008667.1:g.25744A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.611A>G MANE Select | ENSP00000268695.5:p.Asn204Ser | |
| ENST00000268695.9:c.611A>G | ENSP00000268695.5:p.Asn204Ser | |
| ENST00000562593.5:n.4020A>G | ||
| ENST00000562831.1:c.395A>G | ENSP00000455174.1:p.Asn132Ser | |
| ENST00000562931.5:n.199A>G | ||
| ENST00000566563.1:n.313A>G | ||
| ENST00000567525.5:c.292A>G | ENSP00000454484.1:n.292A>G | |
| ENST00000568613.5:c.730A>G | ENSP00000457921.1:n.730A>G | |
| NM_000512.4:c.611A>G | NP_000503.1:p.Asn204Ser | |
| XM_005256301.2:c.611A>G | XP_005256358.1:p.Asn204Ser | |
| XM_005256302.1:c.629A>G | XP_005256359.1:p.Asn210Ser | |
| XM_011522982.1:c.629A>G | XP_011521284.1:p.Asn210Ser | |
| XM_011522984.1:c.629A>G | XP_011521286.1:p.Asn210Ser | |
| NM_001323543.1:c.56A>G | NP_001310472.1:p.Asn19Ser | |
| NM_001323544.1:c.629A>G | NP_001310473.1:p.Asn210Ser | |
| XM_005256301.3:c.611A>G | XP_005256358.1:p.Asn204Ser | |
| XM_011522982.2:c.629A>G | XP_011521284.1:p.Asn210Ser | |
| XM_017023111.2:c.629A>G | XP_016878600.1:p.Asn210Ser | |
| XM_017023112.2:c.629A>G | XP_016878601.1:p.Asn210Ser | |
| XM_017023113.1:c.56A>G | XP_016878602.1:p.Asn19Ser | |
| NM_000512.5:c.611A>G MANE Select | NP_000503.1:p.Asn204Ser | |
| NM_001323543.2:c.56A>G | NP_001310472.1:p.Asn19Ser | |
| NM_001323544.2:c.629A>G | NP_001310473.1:p.Asn210Ser |