Linked Data
ClinVar Variation Id:
143043
ClinVar RCV Id:
RCV000132551
dbSNP Id:
rs369958038
gnomAD v2:
20-5096118-C-A
gnomAD v3:
20-5115472-C-A
gnomAD v4:
20-5115472-C-A
PubMed:
PMID:24911150
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5115472C>A , CM000682.2:g.5115472C>A | GRCh38 |
| NC_000020.10:g.5096118C>A , CM000682.1:g.5096118C>A | GRCh37 |
| NC_000020.9:g.5044118C>A | NCBI36 |
| NG_047066.1:g.16151G>T | |
| NG_053057.1:g.2616G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379143.10:c.683G>T MANE Select | ENSP00000368438.5:p.Ser228Ile | |
| ENST00000379143.9:c.683G>T | ENSP00000368438.5:p.Ser228Ile | |
| ENST00000379160.3:c.683G>T | ENSP00000368458.3:p.Ser228Ile | |
| NM_002592.2:c.683G>T | NP_002583.1:p.Ser228Ile | |
| NM_182649.1:c.683G>T | NP_872590.1:p.Ser228Ile | |
| NM_182649.2:c.683G>T MANE Select | NP_872590.1:p.Ser228Ile |