Linked Data
ClinVar Variation Id:
93175
dbSNP Id:
rs371429653
ExAC:
16:88908379 G / A
gnomAD v2:
16-88908379-G-A
gnomAD v3:
16-88841971-G-A
gnomAD v4:
16-88841971-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88841971G>A , CM000678.2:g.88841971G>A | GRCh38 |
| NC_000016.9:g.88908379G>A , CM000678.1:g.88908379G>A | GRCh37 |
| NC_000016.8:g.87435880G>A | NCBI36 |
| NG_008667.1:g.19996C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.245C>T MANE Select | ENSP00000268695.5:p.Ser82Leu | |
| ENST00000268695.9:c.245C>T | ENSP00000268695.5:p.Ser82Leu | |
| ENST00000562593.5:n.3654C>T | ||
| ENST00000562831.1:c.29C>T | ENSP00000455174.1:p.Ala10Val | |
| ENST00000565364.1:n.380C>T | ||
| ENST00000567525.5:c.70C>T | ENSP00000454484.1:p.Arg24Ter | |
| ENST00000567779.1:n.75C>T | ||
| ENST00000568613.5:c.364C>T | ENSP00000457921.1:n.364C>T | |
| NM_000512.4:c.245C>T | NP_000503.1:p.Ser82Leu | |
| XM_005256301.2:c.245C>T | XP_005256358.1:p.Ser82Leu | |
| XM_005256302.1:c.263C>T | XP_005256359.1:p.Ser88Leu | |
| XM_011522982.1:c.263C>T | XP_011521284.1:p.Ser88Leu | |
| XM_011522984.1:c.263C>T | XP_011521286.1:p.Ser88Leu | |
| NM_001323543.1:c.-311C>T | NP_001310472.1:n.-311C>T | |
| NM_001323544.1:c.263C>T | NP_001310473.1:p.Ser88Leu | |
| XM_005256301.3:c.245C>T | XP_005256358.1:p.Ser82Leu | |
| XM_011522982.2:c.263C>T | XP_011521284.1:p.Ser88Leu | |
| XM_017023111.2:c.263C>T | XP_016878600.1:p.Ser88Leu | |
| XM_017023112.2:c.263C>T | XP_016878601.1:p.Ser88Leu | |
| XM_017023113.1:c.-311C>T | XP_016878602.1:n.-311C>T | |
| NM_000512.5:c.245C>T MANE Select | NP_000503.1:p.Ser82Leu | |
| NM_001323543.2:c.-311C>T | NP_001310472.1:n.-311C>T | |
| NM_001323544.2:c.263C>T | NP_001310473.1:p.Ser88Leu |