Linked Data
dbSNP Id:
rs1407385550
gnomAD v2:
8-19818347-A-T
gnomAD v3:
8-19960836-A-T
gnomAD v4:
8-19960836-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960836A>T , CM000670.2:g.19960836A>T | GRCh38 |
| NC_000008.10:g.19818347A>T , CM000670.1:g.19818347A>T | GRCh37 |
| NC_000008.9:g.19862627A>T | NCBI36 |
| NG_008855.1:g.26766A>T | |
| NG_008855.2:g.64120A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1140-65A>T MANE Select | ENSP00000497642.1:n.1140-65A>T | |
| ENST00000650478.1:c.80-65A>T | ENSP00000497560.1:n.80-65A>T | |
| ENST00000311322.8:c.1140-65A>T | ENSP00000309757.6:n.1140-65A>T | |
| NM_000237.2:c.1140-65A>T | NP_000228.1:n.1140-65A>T | |
| NM_000237.3:c.1140-65A>T MANE Select | NP_000228.1:n.1140-65A>T |