Linked Data
ClinVar Variation Id:
1978635
ClinVar RCV Id:
RCV002775108
dbSNP Id:
rs375797635
ExAC:
11:5248020 C / T
gnomAD v2:
11-5248020-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226790C>T , CM000673.2:g.5226790C>T | GRCh38 |
| NC_000011.9:g.5248020C>T , CM000673.1:g.5248020C>T | GRCh37 |
| NC_000011.8:g.5204596C>T | NCBI36 |
| NG_000007.3:g.70826G>A | |
| NG_059281.1:g.5282G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.102G>A | ENSP00000494175.1:p.Val34= | |
| ENST00000335295.4:c.102G>A MANE Select | ENSP00000333994.3:p.Val34= | |
| ENST00000380315.2:c.102G>A | ENSP00000369671.2:p.Val34= | |
| ENST00000475226.1:n.34G>A | ||
| ENST00000485743.1:n.153G>A | ||
| ENST00000633227.1:c.86G>A | ENSP00000488004.1:p.Trp29Ter | |
| NM_000518.4:c.102G>A | NP_000509.1:p.Val34= | |
| NM_000518.5:c.102G>A MANE Select | NP_000509.1:p.Val34= |