Linked Data
ClinVar Variation Id:
15175
ClinVar RCV Id:
RCV000016352
dbSNP Id:
rs334
gnomAD v4:
11-5227002-T-G
PubMed:
PMID:5658717
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227002T>G , CM000673.2:g.5227002T>G | GRCh38 |
| NC_000011.9:g.5248232T>G , CM000673.1:g.5248232T>G | GRCh37 |
| NC_000011.8:g.5204808T>G | NCBI36 |
| NG_000007.3:g.70614A>C | |
| NG_059281.1:g.5070A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.20A>C | ENSP00000494175.1:p.Glu7Ala | |
| ENST00000335295.4:c.20A>C MANE Select | ENSP00000333994.3:p.Glu7Ala | |
| ENST00000380315.2:c.20A>C | ENSP00000369671.2:p.Glu7Ala | |
| ENST00000485743.1:n.71A>C | ||
| ENST00000633227.1:c.20A>C | ENSP00000488004.1:p.Glu7Ala | |
| NM_000518.4:c.20A>C | NP_000509.1:p.Glu7Ala | |
| NM_000518.5:c.20A>C MANE Select | NP_000509.1:p.Glu7Ala |