Linked Data
dbSNP Id:
rs558996508
ExAC:
17:4925862 A / G
gnomAD v2:
17-4925862-A-G
gnomAD v3:
17-5022567-A-G
gnomAD v4:
17-5022567-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5022567A>G , CM000679.2:g.5022567A>G | GRCh38 |
| NC_000017.10:g.4925862A>G , CM000679.1:g.4925862A>G | GRCh37 |
| NC_000017.9:g.4866586A>G | NCBI36 |
| NG_034137.1:g.29620A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.2486A>G MANE Select | ENSP00000320821.5:p.Glu829Gly | |
| ENST00000320785.9:c.2486A>G | ENSP00000320821.5:p.Glu829Gly | |
| NM_006612.5:c.2486A>G | NP_006603.2:p.Glu829Gly | |
| XM_005256424.1:c.2486A>G | XP_005256481.1:p.Glu829Gly | |
| XM_005256424.2:c.2486A>G | XP_005256481.1:p.Glu829Gly | |
| NM_006612.6:c.2486A>G MANE Select | NP_006603.2:p.Glu829Gly |