Linked Data
ClinVar Variation Id:
1620
ClinVar RCV Id:
RCV000115027
dbSNP Id:
rs2286963
ExAC:
2:211060050 T / G
gnomAD v2:
2-211060050-T-G
gnomAD v3:
2-210195326-T-G
gnomAD v4:
2-210195326-T-G
PubMed:
PMID:24591516
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210195326T>G , CM000664.2:g.210195326T>G | GRCh38 |
| NC_000002.11:g.211060050T>G , CM000664.1:g.211060050T>G | GRCh37 |
| NC_000002.10:g.210768295T>G | NCBI36 |
| NG_008002.1:g.35166A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233710.4:c.997A>C MANE Select | ENSP00000233710.3:p.Lys333Gln | |
| ENST00000652584.1:n.1225A>C | ||
| ENST00000233710.3:c.997A>C | ENSP00000233710.3:p.Lys333Gln | |
| NM_001608.3:c.997A>C | NP_001599.1:p.Lys333Gln | |
| XM_005246517.3:c.934A>C | XP_005246574.1:p.Lys312Gln | |
| XM_005246517.4:c.934A>C | XP_005246574.1:p.Lys312Gln | |
| XM_017003955.1:c.574A>C | XP_016859444.1:p.Lys192Gln | |
| NM_001608.4:c.997A>C MANE Select | NP_001599.1:p.Lys333Gln |