Linked Data
ClinVar Variation Id:
1171505
ClinVar RCV Id:
RCV001524691
dbSNP Id:
rs727504416
gnomAD v4:
14-23433549-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23433549C>G , CM000676.2:g.23433549C>G | GRCh38 |
| NC_000014.8:g.23902758C>G , CM000676.1:g.23902758C>G | GRCh37 |
| NC_000014.7:g.22972598C>G | NCBI36 |
| NG_007884.1:g.7113G>C , LRG_384:g.7113G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.184G>C MANE Select | ENSP00000347507.3:p.Glu62Gln | |
| ENST00000355349.3:c.184G>C | ENSP00000347507.3:p.Glu62Gln | |
| NM_000257.3:c.184G>C | NP_000248.2:p.Glu62Gln | |
| XR_245686.3:n.290G>C | ||
| XM_017021340.1:c.184G>C | XP_016876829.1:p.Glu62Gln | |
| NM_000257.4:c.184G>C MANE Select | NP_000248.2:p.Glu62Gln |