Linked Data
ClinVar Variation Id:
1612817
ClinVar RCV Id:
RCV002158095
dbSNP Id:
rs1349384278
gnomAD v4:
11-5227016-C-A
COSMIC:
COSM372647
MyVariant Identifiers:
chr11:g.5248246C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227016C>A , CM000673.2:g.5227016C>A | GRCh38 |
| NC_000011.9:g.5248246C>A , CM000673.1:g.5248246C>A | GRCh37 |
| NC_000011.8:g.5204822C>A | NCBI36 |
| NG_000007.3:g.70600G>T | |
| NG_059281.1:g.5056G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.6G>T | ENSP00000494175.1:p.Val2= | |
| ENST00000335295.4:c.6G>T MANE Select | ENSP00000333994.3:p.Val2= | |
| ENST00000380315.2:c.6G>T | ENSP00000369671.2:p.Val2= | |
| ENST00000485743.1:n.57G>T | ||
| ENST00000633227.1:c.6G>T | ENSP00000488004.1:p.Val2= | |
| NM_000518.4:c.6G>T | NP_000509.1:p.Val2= | |
| NM_000518.5:c.6G>T MANE Select | NP_000509.1:p.Val2= |