Linked Data
ClinVar Variation Id:
3093708
ClinVar RCV Id:
RCV004388991
dbSNP Id:
rs1468071224
gnomAD v3:
17-6780387-G-C
gnomAD v4:
17-6780387-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780387G>C , CM000679.2:g.6780387G>C | GRCh38 |
| NC_000017.10:g.6683706G>C , CM000679.1:g.6683706G>C | GRCh37 |
| NC_000017.9:g.6624430G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.519G>C MANE Select | ENSP00000321386.4:p.Arg173Ser | |
| ENST00000321535.4:c.519G>C | ENSP00000321386.4:p.Arg173Ser | |
| NM_153230.2:c.519G>C | NP_694962.1:p.Arg173Ser | |
| XM_011523697.1:c.519G>C | XP_011521999.1:p.Arg173Ser | |
| XR_243544.3:n.697G>C | ||
| NM_153230.3:c.519G>C MANE Select | NP_694962.1:p.Arg173Ser |