Linked Data
ClinVar Variation Id:
15806
ClinVar RCV Id:
RCV001283977
dbSNP Id:
rs33960522
gnomAD v3:
16-176987-G-C
gnomAD v4:
16-176987-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176987G>C , CM000678.2:g.176987G>C | GRCh38 |
| NC_000016.9:g.226986G>C , CM000678.1:g.226986G>C | GRCh37 |
| NC_000016.8:g.166986G>C | NCBI36 |
| NG_000006.1:g.37850G>C | |
| NG_059186.1:g.5337G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.154G>C MANE Select | ENSP00000322421.5:p.Gly52Arg | |
| ENST00000397797.1:c.58G>C | ENSP00000380899.1:p.Gly20Arg | |
| ENST00000472694.1:n.290G>C | ||
| ENST00000487791.1:n.123G>C | ||
| NM_000558.4:c.154G>C | NP_000549.1:p.Gly52Arg | |
| NM_000558.5:c.154G>C MANE Select | NP_000549.1:p.Gly52Arg |