Linked Data
dbSNP Id:
rs758743846
ExAC:
5:45462125 T / C
gnomAD v2:
5-45462125-T-C
gnomAD v3:
5-45462023-T-C
gnomAD v4:
5-45462023-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45462023T>C , CM000667.2:g.45462023T>C | GRCh38 |
| NC_000005.9:g.45462125T>C , CM000667.1:g.45462125T>C | GRCh37 |
| NC_000005.8:g.45497882T>C | NCBI36 |
| NG_042183.1:g.239096A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.850-16A>G MANE Select | ENSP00000307342.4:n.850-16A>G | |
| ENST00000637305.1:n.13-16A>G | ||
| ENST00000673735.1:c.850-16A>G | ENSP00000501107.1:n.850-16A>G | |
| ENST00000303230.5:c.850-16A>G | ENSP00000307342.4:n.850-16A>G | |
| NM_021072.3:c.850-16A>G | NP_066550.2:n.850-16A>G | |
| NM_021072.4:c.850-16A>G MANE Select | NP_066550.2:n.850-16A>G |