Linked Data
ClinVar Variation Id:
3186199
ClinVar RCV Id:
RCV004479597
dbSNP Id:
rs772287563
ExAC:
4:69535634 G / C
gnomAD v2:
4-69535634-G-C
gnomAD v4:
4-68669916-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68669916G>C , CM000666.2:g.68669916G>C | GRCh38 |
| NC_000004.11:g.69535634G>C , CM000666.1:g.69535634G>C | GRCh37 |
| NC_000004.10:g.69218229G>C | NCBI36 |
| NG_052676.1:g.5861C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.703C>G MANE Select | ENSP00000341045.5:p.Gln235Glu | |
| ENST00000338206.5:c.703C>G | ENSP00000341045.5:p.Gln235Glu | |
| ENST00000616841.4:c.703C>G | ENSP00000482004.1:p.Gln235Glu | |
| NM_001076.3:c.703C>G | NP_001067.2:p.Gln235Glu | |
| NM_001076.4:c.703C>G MANE Select | NP_001067.2:p.Gln235Glu |