Linked Data
dbSNP Id:
rs200704114
ExAC:
16:88876561 A / C
gnomAD v2:
16-88876561-A-C
gnomAD v3:
16-88810153-A-C
gnomAD v4:
16-88810153-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810153A>C , CM000678.2:g.88810153A>C | GRCh38 |
| NC_000016.9:g.88876561A>C , CM000678.1:g.88876561A>C | GRCh37 |
| NC_000016.8:g.87404062A>C | NCBI36 |
| NG_008013.1:g.6782T>G | |
| NG_028266.1:g.11376A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.322-5T>G MANE Select | ENSP00000367615.3:n.322-5T>G | |
| ENST00000378364.7:c.322-5T>G | ENSP00000367615.3:n.322-5T>G | |
| ENST00000426324.6:c.322-5T>G | ENSP00000397007.2:n.322-5T>G | |
| ENST00000562464.1:n.332-5T>G | ||
| ENST00000563655.5:c.241-5T>G | ENSP00000456012.1:n.241-5T>G | |
| ENST00000567057.5:n.116T>G | ||
| ENST00000567391.5:c.188-5T>G | ENSP00000457964.1:n.188-5T>G | |
| ENST00000567713.5:c.321+270T>G | ENSP00000455749.1:n.321+270T>G | |
| ENST00000568319.5:c.188-5T>G | ENSP00000456905.1:n.188-5T>G | |
| ENST00000568575.1:n.246T>G | ||
| ENST00000569616.1:c.320-5T>G | ||
| NM_000485.2:c.322-5T>G | NP_000476.1:n.322-5T>G | |
| NM_001030018.1:c.322-5T>G | NP_001025189.1:n.322-5T>G | |
| NM_000485.3:c.322-5T>G MANE Select | NP_000476.1:n.322-5T>G | |
| NM_001030018.2:c.322-5T>G | NP_001025189.1:n.322-5T>G |