Linked Data
ClinVar Variation Id:
15808
dbSNP Id:
rs41518249
gnomAD v2:
16-223178-C-A
gnomAD v4:
16-173179-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173179C>A , CM000678.2:g.173179C>A | GRCh38 |
| NC_000016.9:g.223178C>A , CM000678.1:g.223178C>A | GRCh37 |
| NC_000016.8:g.163178C>A | NCBI36 |
| NG_000006.1:g.34042C>A | |
| NG_059186.1:g.1529C>A | |
| NG_059271.1:g.5333C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.150C>A MANE Select | ENSP00000251595.6:p.Ser50Arg | |
| ENST00000251595.10:c.150C>A | ENSP00000251595.6:p.Ser50Arg | |
| ENST00000397806.1:c.54C>A | ENSP00000380908.1:p.Ser18Arg | |
| ENST00000482565.1:n.286C>A | ||
| ENST00000484216.1:n.119C>A | ||
| NM_000517.4:c.150C>A | NP_000508.1:p.Ser50Arg | |
| NM_000517.6:c.150C>A MANE Select | NP_000508.1:p.Ser50Arg |