Linked Data
ClinVar Variation Id:
3224441
ClinVar RCV Id:
RCV004519167
dbSNP Id:
rs2153226477
gnomAD v4:
3-52403224-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52403224C>G , CM000665.2:g.52403224C>G | GRCh38 |
| NC_000003.11:g.52437240C>G , CM000665.1:g.52437240C>G | GRCh37 |
| NC_000003.10:g.52412280C>G | NCBI36 |
| NG_031859.1:g.11770G>C , LRG_529:g.11770G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.1804G>C MANE Select | ENSP00000417132.1:p.Glu602Gln | |
| ENST00000296288.9:c.1750G>C | ENSP00000296288.5:p.Glu584Gln | |
| ENST00000460680.5:c.1804G>C | ENSP00000417132.1:p.Glu602Gln | |
| ENST00000466093.1:n.211G>C | ||
| ENST00000469613.5:c.120-383G>C | ||
| ENST00000478368.1:c.307G>C | ENSP00000420647.1:p.Glu103Gln | |
| NM_004656.3:c.1804G>C | NP_004647.1:p.Glu602Gln | |
| XM_011534149.1:c.1804G>C | XP_011532451.1:p.Glu602Gln | |
| XM_011534150.1:c.1804G>C | XP_011532452.1:p.Glu602Gln | |
| XM_011534151.1:c.1750G>C | XP_011532453.1:p.Glu584Gln | |
| XM_011534152.1:c.1804G>C | XP_011532454.1:p.Glu602Gln | |
| XM_011534149.3:c.1804G>C | XP_011532451.1:p.Glu602Gln | |
| XM_011534150.3:c.1804G>C | XP_011532452.1:p.Glu602Gln | |
| XM_011534151.3:c.1750G>C | XP_011532453.1:p.Glu584Gln | |
| XM_011534152.2:c.1804G>C | XP_011532454.1:p.Glu602Gln | |
| XM_017007303.2:c.1750G>C | XP_016862792.1:p.Glu584Gln | |
| NM_004656.4:c.1804G>C MANE Select | NP_004647.1:p.Glu602Gln |