Linked Data
ClinVar Variation Id:
2116922
ClinVar RCV Id:
RCV003027479
gnomAD v4:
14-22843411-A-G
MyVariant Identifiers:
chr14:g.23312620A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22843411A>G , CM000676.2:g.22843411A>G | GRCh38 |
| NC_000014.8:g.23312620A>G , CM000676.1:g.23312620A>G | GRCh37 |
| NC_000014.7:g.22382460A>G | NCBI36 |
| NG_046989.1:g.11879A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311852.11:c.843A>G MANE Select | ENSP00000308208.6:p.Gln281= | |
| ENST00000548162.2:c.843A>G | ENSP00000506068.1:p.Gln281= | |
| ENST00000680097.1:c.*158A>G | ENSP00000506631.1:n.*158A>G | |
| ENST00000680941.1:c.*241A>G | ENSP00000506378.1:n.*241A>G | |
| ENST00000311852.10:c.843A>G | ENSP00000308208.6:p.Gln281= | |
| ENST00000548162.1:n.1085A>G | ||
| NM_004995.3:c.843A>G | NP_004986.1:p.Gln281= | |
| NM_004995.4:c.843A>G MANE Select | NP_004986.1:p.Gln281= |