Linked Data
ClinVar Variation Id:
2269329
ClinVar RCV Id:
RCV002826206
dbSNP Id:
rs746292898
ExAC:
8:38003490 C / G
gnomAD v2:
8-38003490-C-G
gnomAD v3:
8-38145972-C-G
gnomAD v4:
8-38145972-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145972C>G , CM000670.2:g.38145972C>G | GRCh38 |
| NC_000008.10:g.38003490C>G , CM000670.1:g.38003490C>G | GRCh37 |
| NC_000008.9:g.38122647C>G | NCBI36 |
| NG_011827.1:g.10111G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.641G>C MANE Select | ENSP00000276449.3:p.Gly214Ala | |
| ENST00000276449.8:c.641G>C | ENSP00000276449.3:p.Gly214Ala | |
| ENST00000520114.1:n.1128G>C | ||
| ENST00000522050.1:c.577G>C | ||
| NM_000349.2:c.641G>C | NP_000340.2:p.Gly214Ala | |
| XM_006716392.1:c.641G>C | XP_006716455.1:p.Gly214Ala | |
| NM_000349.3:c.641G>C MANE Select | NP_000340.2:p.Gly214Ala |