Linked Data
ClinVar Variation Id:
3030721
ClinVar RCV Id:
RCV003893877
dbSNP Id:
rs117955118
ExAC:
22:20230140 G / C
gnomAD v2:
22-20230140-G-C
gnomAD v3:
22-20242617-G-C
gnomAD v4:
22-20242617-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242617G>C , CM000684.2:g.20242617G>C | GRCh38 |
| NC_000022.10:g.20230140G>C , CM000684.1:g.20230140G>C | GRCh37 |
| NC_000022.9:g.18610140G>C | NCBI36 |
| NG_012176.1:g.30677C>G | |
| NG_012176.2:g.30677C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.516C>G MANE Select | ENSP00000043402.7:p.Asp172Glu | |
| ENST00000043402.7:c.516C>G | ENSP00000043402.7:p.Asp172Glu | |
| ENST00000416372.5:c.575C>G | ||
| ENST00000425986.1:c.773C>G | ||
| ENST00000469601.1:n.652C>G | ||
| NM_023004.5:c.516C>G | NP_075380.1:p.Asp172Glu | |
| NM_023004.6:c.516C>G MANE Select | NP_075380.1:p.Asp172Glu |