Linked Data
ClinVar Variation Id:
419673
ClinVar RCV Id:
RCV000483762
dbSNP Id:
rs1064794034
gnomAD v4:
1-215878776-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215878776C>A , CM000663.2:g.215878776C>A | GRCh38 |
| NC_000001.10:g.216052118C>A , CM000663.1:g.216052118C>A | GRCh37 |
| NC_000001.9:g.214118741C>A | NCBI36 |
| NG_009497.1:g.549621G>T | |
| NG_009497.2:g.549673G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.8546G>T MANE Select | ENSP00000305941.3:p.Gly2849Val | |
| ENST00000674083.1:c.8546G>T | ENSP00000501296.1:p.Gly2849Val | |
| ENST00000307340.7:c.8546G>T | ENSP00000305941.3:p.Gly2849Val | |
| NM_206933.2:c.8546G>T | NP_996816.2:p.Gly2849Val | |
| NM_206933.3:c.8546G>T | NP_996816.2:p.Gly2849Val | |
| NM_206933.4:c.8546G>T MANE Select | NP_996816.3:p.Gly2849Val |