Linked Data
dbSNP Id:
rs777508180
ExAC:
17:4925791 C / G
gnomAD v2:
17-4925791-C-G
gnomAD v4:
17-5022496-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5022496C>G , CM000679.2:g.5022496C>G | GRCh38 |
| NC_000017.10:g.4925791C>G , CM000679.1:g.4925791C>G | GRCh37 |
| NC_000017.9:g.4866515C>G | NCBI36 |
| NG_034137.1:g.29549C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.2415C>G MANE Select | ENSP00000320821.5:p.Asp805Glu | |
| ENST00000320785.9:c.2415C>G | ENSP00000320821.5:p.Asp805Glu | |
| NM_006612.5:c.2415C>G | NP_006603.2:p.Asp805Glu | |
| XM_005256424.1:c.2415C>G | XP_005256481.1:p.Asp805Glu | |
| XM_005256424.2:c.2415C>G | XP_005256481.1:p.Asp805Glu | |
| NM_006612.6:c.2415C>G MANE Select | NP_006603.2:p.Asp805Glu |