Linked Data
ClinVar Variation Id:
894980
dbSNP Id:
rs533476140
ExAC:
20:32026831 G / T
gnomAD v2:
20-32026831-G-T
gnomAD v3:
20-33439025-G-T
gnomAD v4:
20-33439025-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33439025G>T , CM000682.2:g.33439025G>T | GRCh38 |
| NC_000020.10:g.32026831G>T , CM000682.1:g.32026831G>T | GRCh37 |
| NC_000020.9:g.31490492G>T | NCBI36 |
| NG_011622.1:g.9868C>A , LRG_332:g.9868C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.312C>A MANE Select | ENSP00000217381.2:p.Gly104= | |
| ENST00000217381.2:c.312C>A | ENSP00000217381.2:p.Gly104= | |
| NM_003098.2:c.312C>A , LRG_332t1:c.312C>A | NP_003089.1:p.Gly104= | |
| XM_005260517.1:c.312C>A | XP_005260574.1:p.Gly104= | |
| XM_011529007.1:c.312C>A | XP_011527309.1:p.Gly104= | |
| XM_011529008.1:c.312C>A | XP_011527310.1:p.Gly104= | |
| XR_936612.1:n.545C>A | ||
| XM_024451971.1:c.-16C>A | XP_024307739.1:n.-16C>A | |
| NM_003098.3:c.312C>A MANE Select | NP_003089.1:p.Gly104= |