Linked Data
dbSNP Id:
rs4889606
gnomAD v2:
16-31011183-A-G
gnomAD v3:
16-30999862-A-G
gnomAD v4:
16-30999862-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30999862A>G , CM000678.2:g.30999862A>G | GRCh38 |
| NC_000016.9:g.31011183A>G , CM000678.1:g.31011183A>G | GRCh37 |
| NC_000016.8:g.30918684A>G | NCBI36 |
| NG_041829.1:g.15647T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000215095.11:c.280+1066T>C MANE Select | ENSP00000215095.5:n.280+1066T>C | |
| ENST00000565419.2:c.280+1066T>C | ENSP00000455899.1:n.280+1066T>C | |
| ENST00000215095.9:c.280+1066T>C | ENSP00000215095.5:n.280+1066T>C | |
| ENST00000565419.1:c.280+1066T>C | ENSP00000455899.1:n.280+1066T>C | |
| ENST00000569638.5:c.28+1066T>C | ENSP00000457067.1:n.28+1066T>C | |
| NM_052874.4:c.280+1066T>C | NP_443106.1:n.280+1066T>C | |
| XM_017022893.1:c.262+1066T>C | XP_016878382.1:n.262+1066T>C | |
| NM_052874.5:c.280+1066T>C MANE Select | NP_443106.1:n.280+1066T>C |