Linked Data
dbSNP Id:
rs1293074203
gnomAD v2:
8-25892091-C-A
gnomAD v3:
8-26034575-C-A
gnomAD v4:
8-26034575-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.26034575C>A , CM000670.2:g.26034575C>A | GRCh38 |
| NC_000008.10:g.25892091C>A , CM000670.1:g.25892091C>A | GRCh37 |
| NC_000008.9:g.25948008C>A | NCBI36 |
| NG_030344.1:g.15550G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000520164.6:c.483-1422G>T MANE Select | ENSP00000430241.1:n.483-1422G>T | |
| ENST00000408929.7:c.39-1422G>T | ENSP00000386178.3:n.39-1422G>T | |
| ENST00000517825.1:n.802-1422G>T | ||
| ENST00000520164.5:c.483-1422G>T | ENSP00000430241.1:n.483-1422G>T | |
| NM_022659.3:c.483-1422G>T | NP_073150.2:n.483-1422G>T | |
| NM_022659.4:c.483-1422G>T MANE Select | NP_073150.2:n.483-1422G>T |