Linked Data
dbSNP Id:
rs1561164175
gnomAD v2:
5-45462288-C-A
gnomAD v3:
5-45462186-C-A
gnomAD v4:
5-45462186-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45462186C>A , CM000667.2:g.45462186C>A | GRCh38 |
| NC_000005.9:g.45462288C>A , CM000667.1:g.45462288C>A | GRCh37 |
| NC_000005.8:g.45498045C>A | NCBI36 |
| NG_042183.1:g.238933G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.850-179G>T MANE Select | ENSP00000307342.4:n.850-179G>T | |
| ENST00000637305.1:n.13-179G>T | ||
| ENST00000673735.1:c.850-179G>T | ENSP00000501107.1:n.850-179G>T | |
| ENST00000303230.5:c.850-179G>T | ENSP00000307342.4:n.850-179G>T | |
| NM_021072.3:c.850-179G>T | NP_066550.2:n.850-179G>T | |
| NM_021072.4:c.850-179G>T MANE Select | NP_066550.2:n.850-179G>T |