Linked Data
ClinVar Variation Id:
709
dbSNP Id:
rs118204444
ExAC:
16:88904111 G / A
gnomAD v2:
16-88904111-G-A
gnomAD v3:
16-88837703-G-A
gnomAD v4:
16-88837703-G-A
PubMed:
PMID:9385378
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88837703G>A , CM000678.2:g.88837703G>A | GRCh38 |
| NC_000016.9:g.88904111G>A , CM000678.1:g.88904111G>A | GRCh37 |
| NC_000016.8:g.87431612G>A | NCBI36 |
| NG_008667.1:g.24264C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.485C>T MANE Select | ENSP00000268695.5:p.Ser162Phe | |
| ENST00000268695.9:c.485C>T | ENSP00000268695.5:p.Ser162Phe | |
| ENST00000561812.1:n.441C>T | ||
| ENST00000562593.5:n.3894C>T | ||
| ENST00000562831.1:c.269C>T | ENSP00000455174.1:p.Ser90Phe | |
| ENST00000562931.5:n.73C>T | ||
| ENST00000566563.1:n.187C>T | ||
| ENST00000567525.5:c.248-1436C>T | ENSP00000454484.1:n.248-1436C>T | |
| ENST00000568613.5:c.604C>T | ENSP00000457921.1:n.604C>T | |
| NM_000512.4:c.485C>T | NP_000503.1:p.Ser162Phe | |
| XM_005256301.2:c.485C>T | XP_005256358.1:p.Ser162Phe | |
| XM_005256302.1:c.503C>T | XP_005256359.1:p.Ser168Phe | |
| XM_011522982.1:c.503C>T | XP_011521284.1:p.Ser168Phe | |
| XM_011522984.1:c.503C>T | XP_011521286.1:p.Ser168Phe | |
| NM_001323543.1:c.-71C>T | NP_001310472.1:n.-71C>T | |
| NM_001323544.1:c.503C>T | NP_001310473.1:p.Ser168Phe | |
| XM_005256301.3:c.485C>T | XP_005256358.1:p.Ser162Phe | |
| XM_011522982.2:c.503C>T | XP_011521284.1:p.Ser168Phe | |
| XM_017023111.2:c.503C>T | XP_016878600.1:p.Ser168Phe | |
| XM_017023112.2:c.503C>T | XP_016878601.1:p.Ser168Phe | |
| XM_017023113.1:c.-71C>T | XP_016878602.1:n.-71C>T | |
| NM_000512.5:c.485C>T MANE Select | NP_000503.1:p.Ser162Phe | |
| NM_001323543.2:c.-71C>T | NP_001310472.1:n.-71C>T | |
| NM_001323544.2:c.503C>T | NP_001310473.1:p.Ser168Phe |