Linked Data
ClinVar Variation Id:
352704
dbSNP Id:
rs114293092
ExAC:
5:169533279 C / G
gnomAD v2:
5-169533279-C-G
gnomAD v3:
5-170106275-C-G
gnomAD v4:
5-170106275-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.170106275C>G , CM000667.2:g.170106275C>G | GRCh38 |
| NC_000005.9:g.169533279C>G , CM000667.1:g.169533279C>G | GRCh37 |
| NC_000005.8:g.169465857C>G | NCBI36 |
| NG_012068.1:g.5363C>G | |
| NG_012068.2:g.5363C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306268.8:c.318C>G MANE Select | ENSP00000304286.5:p.Asp106Glu | |
| ENST00000449804.4:c.318C>G | ENSP00000415483.2:p.Asp106Glu | |
| ENST00000306268.6:c.318C>G | ENSP00000304286.5:p.Asp106Glu | |
| ENST00000449804.3:c.318C>G | ENSP00000415483.2:p.Asp106Glu | |
| NM_012188.4:c.318C>G | NP_036320.2:p.Asp106Glu | |
| NM_144769.2:c.318C>G | NP_658982.1:p.Asp106Glu | |
| XR_941092.1:n.379C>G | ||
| NM_012188.5:c.318C>G MANE Select | NP_036320.2:p.Asp106Glu | |
| NM_144769.3:c.318C>G | NP_658982.1:p.Asp106Glu | |
| NM_144769.4:c.318C>G | NP_658982.1:p.Asp106Glu |