Linked Data
ClinVar Variation Id:
265170
dbSNP Id:
rs886039377
gnomAD v2:
16-88880931-G-C
gnomAD v3:
16-88814523-G-C
gnomAD v4:
16-88814523-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88814523G>C , CM000678.2:g.88814523G>C | GRCh38 |
| NC_000016.9:g.88880931G>C , CM000678.1:g.88880931G>C | GRCh37 |
| NC_000016.8:g.87408432G>C | NCBI36 |
| NG_008013.1:g.2412C>G | |
| NG_008667.1:g.47444C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.1485C>G MANE Select | ENSP00000268695.5:p.Asn495Lys | |
| ENST00000268695.9:c.1485C>G | ENSP00000268695.5:p.Asn495Lys | |
| ENST00000562593.5:n.4894C>G | ||
| ENST00000567525.5:c.1166C>G | ENSP00000454484.1:n.1166C>G | |
| ENST00000568613.5:c.1604C>G | ENSP00000457921.1:n.1604C>G | |
| NM_000512.4:c.1485C>G | NP_000503.1:p.Asn495Lys | |
| XM_005256302.1:c.1503C>G | XP_005256359.1:p.Asn501Lys | |
| NM_001323543.1:c.930C>G | NP_001310472.1:p.Asn310Lys | |
| NM_001323544.1:c.1503C>G | NP_001310473.1:p.Asn501Lys | |
| XM_005256301.3:c.*2649C>G | XP_005256358.1:n.*2649C>G | |
| XM_011522982.2:c.*2649C>G | XP_011521284.1:n.*2649C>G | |
| XM_017023112.2:c.*2907C>G | XP_016878601.1:n.*2907C>G | |
| XM_017023113.1:c.*2649C>G | XP_016878602.1:n.*2649C>G | |
| NM_000512.5:c.1485C>G MANE Select | NP_000503.1:p.Asn495Lys | |
| NM_001323543.2:c.930C>G | NP_001310472.1:p.Asn310Lys | |
| NM_001323544.2:c.1503C>G | NP_001310473.1:p.Asn501Lys |