Linked Data
ClinVar Variation Id:
372291
ClinVar RCV Id:
RCV000412823
dbSNP Id:
rs1057517701
gnomAD v2:
1-94506884-G-A
gnomAD v3:
1-94041328-G-A
gnomAD v4:
1-94041328-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041328G>A , CM000663.2:g.94041328G>A | GRCh38 |
| NC_000001.10:g.94506884G>A , CM000663.1:g.94506884G>A | GRCh37 |
| NC_000001.9:g.94279472G>A | NCBI36 |
| NG_009073.1:g.84822C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.3403C>T MANE Select | ENSP00000359245.3:p.Gln1135Ter | |
| ENST00000370225.3:c.3403C>T | ENSP00000359245.3:p.Gln1135Ter | |
| ENST00000536513.5:c.-64-1239C>T | ENSP00000439707.2:n.-64-1239C>T | |
| NM_000350.2:c.3403C>T | NP_000341.2:p.Gln1135Ter | |
| NM_000350.3:c.3403C>T MANE Select | NP_000341.2:p.Gln1135Ter |