Linked Data
ClinVar Variation Id:
511680
ClinVar RCV Id:
RCV000608561
dbSNP Id:
rs377533527
ExAC:
2:202508168 C / T
gnomAD v2:
2-202508168-C-T
gnomAD v3:
2-201643445-C-T
gnomAD v4:
2-201643445-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201643445C>T , CM000664.2:g.201643445C>T | GRCh38 |
| NC_000002.11:g.202508168C>T , CM000664.1:g.202508168C>T | GRCh37 |
| NC_000002.10:g.202216413C>T | NCBI36 |
| NG_012654.1:g.60250G>A | |
| NG_032049.1:g.5085G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409883.7:c.-45G>A MANE Select | ENSP00000386264.2:n.-45G>A | |
| ENST00000286196.9:c.-119G>A | ENSP00000286196.5:n.-119G>A | |
| ENST00000409883.6:c.-45G>A | ENSP00000386264.2:n.-45G>A | |
| ENST00000432684.6:c.-45G>A | ENSP00000413230.2:n.-45G>A | |
| NM_001044385.2:c.-45G>A | NP_001037850.1:n.-45G>A | |
| NM_001044385.3:c.-45G>A MANE Select | NP_001037850.1:n.-45G>A |