Linked Data
ClinVar Variation Id:
257317
dbSNP Id:
rs1208081
ExAC:
2:202501448 T / C
gnomAD v2:
2-202501448-T-C
gnomAD v3:
2-201636725-T-C
gnomAD v4:
2-201636725-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201636725T>C , CM000664.2:g.201636725T>C | GRCh38 |
| NC_000002.11:g.202501448T>C , CM000664.1:g.202501448T>C | GRCh37 |
| NC_000002.10:g.202209693T>C | NCBI36 |
| NG_032049.1:g.11805A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471318.6:n.164+23A>G | ||
| ENST00000621467.5:c.148+23A>G | ENSP00000480508.2:n.148+23A>G | |
| ENST00000686475.1:n.110+23A>G | ||
| ENST00000409883.7:c.274+23A>G MANE Select | ENSP00000386264.2:n.274+23A>G | |
| ENST00000286196.9:c.195+23A>G | ENSP00000286196.5:n.195+23A>G | |
| ENST00000409444.6:c.250+23A>G | ENSP00000387203.2:n.250+23A>G | |
| ENST00000409883.6:c.274+23A>G | ENSP00000386264.2:n.274+23A>G | |
| ENST00000432684.6:c.274+23A>G | ENSP00000413230.2:n.274+23A>G | |
| ENST00000444047.6:c.274+23A>G | ENSP00000402681.2:n.274+23A>G | |
| ENST00000480124.1:n.204A>G | ||
| ENST00000489550.5:n.287+23A>G | ||
| ENST00000621467.4:c.250+23A>G | ENSP00000480508.1:n.250+23A>G | |
| NM_001044385.2:c.274+23A>G | NP_001037850.1:n.274+23A>G | |
| NM_152388.3:c.250+23A>G | NP_689601.2:n.250+23A>G | |
| NM_001044385.3:c.274+23A>G MANE Select | NP_001037850.1:n.274+23A>G | |
| NM_152388.4:c.250+23A>G | NP_689601.2:n.250+23A>G |