Linked Data
ClinVar Variation Id:
698
ClinVar RCV Id:
RCV000000733
dbSNP Id:
rs118204435
gnomAD v3:
16-88836222-G-C
gnomAD v4:
16-88836222-G-C
PubMed:
PMID:1522213
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88836222G>C , CM000678.2:g.88836222G>C | GRCh38 |
| NC_000016.9:g.88902630G>C , CM000678.1:g.88902630G>C | GRCh37 |
| NC_000016.8:g.87430131G>C | NCBI36 |
| NG_008667.1:g.25745C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.612C>G MANE Select | ENSP00000268695.5:p.Asn204Lys | |
| ENST00000268695.9:c.612C>G | ENSP00000268695.5:p.Asn204Lys | |
| ENST00000562593.5:n.4021C>G | ||
| ENST00000562831.1:c.396C>G | ENSP00000455174.1:p.Asn132Lys | |
| ENST00000562931.5:n.200C>G | ||
| ENST00000566563.1:n.314C>G | ||
| ENST00000567525.5:c.293C>G | ENSP00000454484.1:n.293C>G | |
| ENST00000568613.5:c.731C>G | ENSP00000457921.1:n.731C>G | |
| NM_000512.4:c.612C>G | NP_000503.1:p.Asn204Lys | |
| XM_005256301.2:c.612C>G | XP_005256358.1:p.Asn204Lys | |
| XM_005256302.1:c.630C>G | XP_005256359.1:p.Asn210Lys | |
| XM_011522982.1:c.630C>G | XP_011521284.1:p.Asn210Lys | |
| XM_011522984.1:c.630C>G | XP_011521286.1:p.Asn210Lys | |
| NM_001323543.1:c.57C>G | NP_001310472.1:p.Asn19Lys | |
| NM_001323544.1:c.630C>G | NP_001310473.1:p.Asn210Lys | |
| XM_005256301.3:c.612C>G | XP_005256358.1:p.Asn204Lys | |
| XM_011522982.2:c.630C>G | XP_011521284.1:p.Asn210Lys | |
| XM_017023111.2:c.630C>G | XP_016878600.1:p.Asn210Lys | |
| XM_017023112.2:c.630C>G | XP_016878601.1:p.Asn210Lys | |
| XM_017023113.1:c.57C>G | XP_016878602.1:p.Asn19Lys | |
| NM_000512.5:c.612C>G MANE Select | NP_000503.1:p.Asn204Lys | |
| NM_001323543.2:c.57C>G | NP_001310472.1:p.Asn19Lys | |
| NM_001323544.2:c.630C>G | NP_001310473.1:p.Asn210Lys |