Linked Data
ClinVar Variation Id:
488793
dbSNP Id:
rs370087266
ExAC:
9:37782146 T / C
gnomAD v2:
9-37782146-T-C
gnomAD v3:
9-37782149-T-C
gnomAD v4:
9-37782149-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37782149T>C , CM000671.2:g.37782149T>C | GRCh38 |
| NC_000009.11:g.37782146T>C , CM000671.1:g.37782146T>C | GRCh37 |
| NC_000009.10:g.37772146T>C | NCBI36 |
| NG_032780.1:g.7944A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327304.10:c.475-12A>G MANE Select | ENSP00000323046.4:n.475-12A>G | |
| ENST00000465860.6:n.176-12A>G | ||
| ENST00000678095.1:c.81-1269A>G | ENSP00000503205.1:n.81-1269A>G | |
| ENST00000678588.1:n.1152-12A>G | ||
| ENST00000679059.1:c.475-1269A>G | ENSP00000503947.1:n.475-1269A>G | |
| ENST00000327304.9:c.475-12A>G | ENSP00000323046.4:n.475-12A>G | |
| ENST00000396521.3:c.475-1269A>G | ENSP00000379775.3:n.475-1269A>G | |
| ENST00000465229.5:c.475-1269A>G | ENSP00000418422.1:n.475-1269A>G | |
| ENST00000465860.5:n.176-12A>G | ||
| ENST00000482614.5:n.236-12A>G | ||
| ENST00000489414.5:n.194-12A>G | ||
| ENST00000490516.5:n.481-1269A>G | ||
| ENST00000540557.1:c.*910+1765A>G | ENSP00000457548.1:n.*910+1765A>G | |
| NM_001002269.2:c.475-1269A>G | NP_001002269.1:n.475-1269A>G | |
| NM_016042.3:c.475-12A>G | NP_057126.2:n.475-12A>G | |
| NM_016042.4:c.475-12A>G MANE Select | NP_057126.2:n.475-12A>G |