ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00030953 (AFR)
Genomes Max Group AF
0.00027932 (AFR)
Exomes Max Group AF
0.00025237 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178982932C>T , CM000667.2:g.178982932C>T | GRCh38 |
| NC_000005.9:g.178409933C>T , CM000667.1:g.178409933C>T | GRCh37 |
| NC_000005.8:g.178342539C>T | NCBI36 |
| NG_008105.1:g.17192G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.2414G>A MANE Select | ENSP00000430767.1:p.Gly805Asp | |
| ENST00000650031.1:c.2414G>A | ENSP00000497110.1:p.Gly805Asp | |
| ENST00000650488.1:n.1137G>A | ||
| ENST00000231188.9:c.2414G>A | ENSP00000231188.5:p.Gly805Asp | |
| ENST00000517717.1:c.2414G>A | ENSP00000430767.1:p.Gly805Asp | |
| ENST00000519003.1:n.413G>A | ||
| NM_000843.3:c.2414G>A | NP_000834.2:p.Gly805Asp | |
| XR_941310.1:n.1470-6815C>T | ||
| NM_000843.4:c.2414G>A MANE Select | NP_000834.2:p.Gly805Asp |