Linked Data
ClinVar Variation Id:
1921568
ClinVar RCV Id:
RCV002621377
dbSNP Id:
rs971825469
gnomAD v2:
22-29876498-G-C
gnomAD v3:
22-29480509-G-C
gnomAD v4:
22-29480509-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29480509G>C , CM000684.2:g.29480509G>C | GRCh38 |
| NC_000022.10:g.29876498G>C , CM000684.1:g.29876498G>C | GRCh37 |
| NC_000022.9:g.28206498G>C | NCBI36 |
| NG_008404.1:g.5318G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310624.7:c.247G>C MANE Select | ENSP00000311997.6:p.Gly83Arg | |
| ENST00000310624.6:c.247G>C | ENSP00000311997.6:p.Gly83Arg | |
| NM_021076.3:c.247G>C | NP_066554.2:p.Gly83Arg | |
| XM_011530200.1:c.247G>C | XP_011528502.1:p.Gly83Arg | |
| XM_011530200.2:c.247G>C | XP_011528502.1:p.Gly83Arg | |
| NM_021076.4:c.247G>C MANE Select | NP_066554.2:p.Gly83Arg |