Linked Data
ClinVar Variation Id:
325947
ClinVar RCV Id:
RCV000261827
dbSNP Id:
rs188419202
gnomAD v2:
17-7999553-C-T
gnomAD v3:
17-8096235-C-T
gnomAD v4:
17-8096235-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8096235C>T , CM000679.2:g.8096235C>T | GRCh38 |
| NC_000017.10:g.7999553C>T , CM000679.1:g.7999553C>T | GRCh37 |
| NC_000017.9:g.7940278C>T | NCBI36 |
| NG_015807.1:g.27682G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380149.6:c.*392G>A | ENSP00000369494.2:n.*392G>A | |
| ENST00000448843.7:c.*392G>A MANE Select | ENSP00000400581.2:n.*392G>A | |
| ENST00000380149.5:c.*392G>A | ENSP00000369494.1:n.*392G>A | |
| ENST00000448843.6:c.*392G>A | ENSP00000400581.2:n.*392G>A | |
| NM_001165960.1:c.*392G>A | NP_001159432.1:n.*392G>A | |
| NM_021628.2:c.*392G>A | NP_067641.2:n.*392G>A | |
| XR_001752579.2:n.2679G>A | ||
| NM_001369446.1:c.*392G>A | NP_001356375.1:n.*392G>A | |
| NM_021628.3:c.*392G>A MANE Select | NP_067641.2:n.*392G>A |