Linked Data
ClinVar Variation Id:
1330535
ClinVar RCV Id:
RCV001811709
dbSNP Id:
rs41321052
ExAC:
16:223477 A / C
gnomAD v2:
16-223477-A-C
gnomAD v4:
16-173478-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173478A>C , CM000678.2:g.173478A>C | GRCh38 |
| NC_000016.9:g.223477A>C , CM000678.1:g.223477A>C | GRCh37 |
| NC_000016.8:g.163477A>C | NCBI36 |
| NG_000006.1:g.34341A>C | |
| NG_059186.1:g.1828A>C | |
| NG_059271.1:g.5632A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.307A>C MANE Select | ENSP00000251595.6:p.Ser103Arg | |
| ENST00000251595.10:c.307A>C | ENSP00000251595.6:p.Ser103Arg | |
| ENST00000397806.1:c.211A>C | ENSP00000380908.1:p.Ser71Arg | |
| ENST00000482565.1:n.443A>C | ||
| NM_000517.4:c.307A>C | NP_000508.1:p.Ser103Arg | |
| NM_000517.6:c.307A>C MANE Select | NP_000508.1:p.Ser103Arg |