Linked Data
ClinVar Variation Id:
2853727
ClinVar RCV Id:
RCV003696163
dbSNP Id:
rs750652946
ExAC:
1:94506861 G / A
gnomAD v2:
1-94506861-G-A
gnomAD v3:
1-94041305-G-A
gnomAD v4:
1-94041305-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041305G>A , CM000663.2:g.94041305G>A | GRCh38 |
| NC_000001.10:g.94506861G>A , CM000663.1:g.94506861G>A | GRCh37 |
| NC_000001.9:g.94279449G>A | NCBI36 |
| NG_009073.1:g.84845C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3426C>T MANE Select | ENSP00000359245.3:p.Gly1142= | |
| ENST00000370225.3:c.3426C>T | ENSP00000359245.3:p.Gly1142= | |
| ENST00000536513.5:c.-64-1216C>T | ENSP00000439707.2:n.-64-1216C>T | |
| NM_000350.2:c.3426C>T | NP_000341.2:p.Gly1142= | |
| NM_000350.3:c.3426C>T MANE Select | NP_000341.2:p.Gly1142= |