Linked Data
ClinVar Variation Id:
481
ClinVar RCV Id:
RCV000000510
dbSNP Id:
rs104894277
ExAC:
11:112100933 G / A
gnomAD v2:
11-112100933-G-A
gnomAD v4:
11-112230210-G-A
PubMed:
PMID:9450907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112230210G>A , CM000673.2:g.112230210G>A | GRCh38 |
| NC_000011.9:g.112100933G>A , CM000673.1:g.112100933G>A | GRCh37 |
| NC_000011.8:g.111606143G>A | NCBI36 |
| NG_008743.1:g.8846G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280362.8:c.166G>A MANE Select | ENSP00000280362.3:p.Val56Met | |
| ENST00000280362.7:c.166G>A | ENSP00000280362.3:p.Val56Met | |
| ENST00000524931.1:c.-39G>A | ENSP00000434688.1:n.-39G>A | |
| ENST00000525803.1:c.163+1537G>A | ENSP00000431750.1:n.163+1537G>A | |
| ENST00000528679.5:c.164-416G>A | ENSP00000435895.1:n.164-416G>A | |
| ENST00000531175.1:n.117G>A | ||
| ENST00000531673.5:c.164-416G>A | ENSP00000433469.1:n.164-416G>A | |
| NM_000317.2:c.166G>A | NP_000308.1:p.Val56Met | |
| XM_011542943.1:c.127G>A | XP_011541245.1:p.Val43Met | |
| NM_000317.3:c.166G>A MANE Select | NP_000308.1:p.Val56Met |