Linked Data
ClinVar Variation Id:
15323
dbSNP Id:
rs33949930
gnomAD v2:
11-5248247-A-G
gnomAD v3:
11-5227017-A-G
gnomAD v4:
11-5227017-A-G
PubMed:
PMID:1634360
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227017A>G , CM000673.2:g.5227017A>G | GRCh38 |
| NC_000011.9:g.5248247A>G , CM000673.1:g.5248247A>G | GRCh37 |
| NC_000011.8:g.5204823A>G | NCBI36 |
| NG_000007.3:g.70599T>C | |
| NG_059281.1:g.5055T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.5T>C | ENSP00000494175.1:p.Val2Ala | |
| ENST00000335295.4:c.5T>C MANE Select | ENSP00000333994.3:p.Val2Ala | |
| ENST00000380315.2:c.5T>C | ENSP00000369671.2:p.Val2Ala | |
| ENST00000485743.1:n.56T>C | ||
| ENST00000633227.1:c.5T>C | ENSP00000488004.1:p.Val2Ala | |
| NM_000518.4:c.5T>C | NP_000509.1:p.Val2Ala | |
| NM_000518.5:c.5T>C MANE Select | NP_000509.1:p.Val2Ala |