Linked Data
ClinVar Variation Id:
598174
ClinVar RCV Id:
RCV000734507
dbSNP Id:
rs747203032
gnomAD v4:
20-10658689-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658689G>C , CM000682.2:g.10658689G>C | GRCh38 |
| NC_000020.10:g.10639337G>C , CM000682.1:g.10639337G>C | GRCh37 |
| NC_000020.9:g.10587337G>C | NCBI36 |
| NG_007496.1:g.20358C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.473C>G MANE Select | ENSP00000254958.4:p.Ser158Trp | |
| ENST00000254958.9:c.473C>G | ENSP00000254958.4:p.Ser158Trp | |
| ENST00000423891.6:n.339C>G | ||
| NM_000214.2:c.473C>G | NP_000205.1:p.Ser158Trp | |
| NM_000214.3:c.473C>G MANE Select | NP_000205.1:p.Ser158Trp |