Linked Data
dbSNP Id:
rs748202022
ExAC:
17:7915587 C / G
gnomAD v2:
17-7915587-C-G
gnomAD v4:
17-8012269-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8012269C>G , CM000679.2:g.8012269C>G | GRCh38 |
| NC_000017.10:g.7915587C>G , CM000679.1:g.7915587C>G | GRCh37 |
| NC_000017.9:g.7856312C>G | NCBI36 |
| NG_009092.1:g.14600C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.1875C>G MANE Select | ENSP00000254854.4:p.Gly625= | |
| ENST00000254854.4:c.1875C>G | ENSP00000254854.4:p.Gly625= | |
| NM_000180.3:c.1875C>G | NP_000171.1:p.Gly625= | |
| XM_011523816.1:c.1875C>G | XP_011522118.1:p.Gly625= | |
| NM_000180.4:c.1875C>G MANE Select | NP_000171.1:p.Gly625= |