Linked Data
ClinVar Variation Id:
844072
ClinVar RCV Id:
RCV001046836
dbSNP Id:
rs41269121
gnomAD v2:
11-70052276-G-A
gnomAD v4:
11-70206170-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70206170G>A , CM000673.2:g.70206170G>A | GRCh38 |
| NC_000011.9:g.70052276G>A , CM000673.1:g.70052276G>A | GRCh37 |
| NC_000011.8:g.69729924G>A | NCBI36 |
| NG_027966.1:g.8008G>A , LRG_228:g.8008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301838.5:c.324G>A MANE Select | ENSP00000301838.5:p.Val108= | |
| ENST00000301838.4:c.324G>A | ENSP00000301838.4:p.Val108= | |
| NM_003824.3:c.324G>A , LRG_228t1:c.324G>A | NP_003815.1:p.Val108= | |
| NM_003824.4:c.324G>A MANE Select | NP_003815.1:p.Val108= |