Linked Data
ClinVar Variation Id:
3023774
ClinVar RCV Id:
RCV003880869
dbSNP Id:
rs200714352
ExAC:
7:83036466 C / G
gnomAD v2:
7-83036466-C-G
gnomAD v3:
7-83407150-C-G
gnomAD v4:
7-83407150-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83407150C>G , CM000669.2:g.83407150C>G | GRCh38 |
| NC_000007.13:g.83036466C>G , CM000669.1:g.83036466C>G | GRCh37 |
| NC_000007.12:g.82874402C>G | NCBI36 |
| NG_021242.1:g.247014G>C | |
| NG_021242.2:g.247014G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.580G>C | ENSP00000405052.1:p.Glu194Gln | |
| ENST00000642232.1:c.760G>C | ENSP00000494064.1:p.Glu254Gln | |
| ENST00000643230.2:c.760G>C MANE Select | ENSP00000496491.1:p.Glu254Gln | |
| ENST00000643441.1:n.745G>C | ||
| ENST00000644381.1:n.323G>C | ||
| ENST00000307792.7:c.760G>C | ENSP00000303212.3:p.Glu254Gln | |
| ENST00000427262.5:c.580G>C | ENSP00000405052.1:p.Glu194Gln | |
| NM_001178129.1:c.580G>C | NP_001171600.1:p.Glu194Gln | |
| NM_012431.2:c.760G>C | NP_036563.1:p.Glu254Gln | |
| XM_011516715.1:c.760G>C | XP_011515017.1:p.Glu254Gln | |
| NM_012431.3:c.760G>C MANE Select | NP_036563.1:p.Glu254Gln | |
| NM_001178129.2:c.580G>C | NP_001171600.1:p.Glu194Gln |