Linked Data
ClinVar Variation Id:
573096
ClinVar RCV Id:
RCV000694671
dbSNP Id:
rs367904817
ExAC:
19:42482455 C / G
gnomAD v3:
19-41978303-C-G
gnomAD v4:
19-41978303-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41978303C>G , CM000681.2:g.41978303C>G | GRCh38 |
| NC_000019.9:g.42482455C>G , CM000681.1:g.42482455C>G | GRCh37 |
| NC_000019.8:g.47174295C>G | NCBI36 |
| NG_008015.1:g.20928G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.1693G>C | ENSP00000444688.1:p.Glu565Gln | |
| ENST00000644613.1:c.1654G>C | ENSP00000494711.1:p.Glu552Gln | |
| ENST00000648268.1:c.1654G>C MANE Select | ENSP00000498113.1:p.Glu552Gln | |
| ENST00000302102.9:c.1654G>C | ENSP00000302397.5:p.Glu552Gln | |
| ENST00000441343.5:c.1654G>C | ENSP00000411503.1:p.Glu552Gln | |
| ENST00000543770.5:c.1687G>C | ENSP00000437577.1:p.Glu563Gln | |
| ENST00000545399.5:c.1693G>C | ENSP00000444688.1:p.Glu565Gln | |
| ENST00000602133.5:c.1564G>C | ENSP00000471581.1:p.Glu522Gln | |
| NM_001256213.1:c.1687G>C | NP_001243142.1:p.Glu563Gln | |
| NM_001256214.1:c.1693G>C | NP_001243143.1:p.Glu565Gln | |
| NM_152296.4:c.1654G>C | NP_689509.1:p.Glu552Gln | |
| XM_011526991.1:c.1564G>C | XP_011525293.1:p.Glu522Gln | |
| NM_152296.5:c.1654G>C MANE Select | NP_689509.1:p.Glu552Gln | |
| NM_001256214.2:c.1693G>C | NP_001243143.1:p.Glu565Gln | |
| NM_001256213.2:c.1687G>C | NP_001243142.1:p.Glu563Gln |