Linked Data
ClinVar Variation Id:
305434
ClinVar RCV Id:
RCV000395724
dbSNP Id:
rs886048522
gnomAD v4:
11-66025185-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66025185C>T , CM000673.2:g.66025185C>T | GRCh38 |
| NC_000011.9:g.65792656C>T , CM000673.1:g.65792656C>T | GRCh37 |
| NC_000011.8:g.65549232C>T | NCBI36 |
| NG_016285.1:g.6333G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312106.6:c.1195G>A MANE Select | ENSP00000309052.5:p.Gly399Arg | |
| ENST00000312106.5:c.1195G>A | ENSP00000309052.5:p.Gly399Arg | |
| NM_053054.3:c.1195G>A | NP_444282.3:p.Gly399Arg | |
| XR_949785.1:n.1335G>A | ||
| XR_949786.1:n.1335G>A | ||
| XR_949787.1:n.1335G>A | ||
| XR_002957121.1:n.1333G>A | ||
| XR_002957122.1:n.1334G>A | ||
| XR_949785.2:n.1333G>A | ||
| XR_949787.2:n.1334G>A | ||
| NM_053054.4:c.1195G>A MANE Select | NP_444282.3:p.Gly399Arg |