Linked Data
dbSNP Id:
rs72466461
ExAC:
8:18258113 A / G
gnomAD v2:
8-18258113-A-G
gnomAD v3:
8-18400603-A-G
gnomAD v4:
8-18400603-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400603A>G , CM000670.2:g.18400603A>G | GRCh38 |
| NC_000008.10:g.18258113A>G , CM000670.1:g.18258113A>G | GRCh37 |
| NC_000008.9:g.18302393A>G | NCBI36 |
| NG_012246.1:g.14359A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.600A>G MANE Select | ENSP00000286479.3:p.Glu200= | |
| ENST00000286479.3:c.600A>G | ENSP00000286479.3:p.Glu200= | |
| ENST00000520116.1:c.210A>G | ENSP00000428416.1:p.Glu70= | |
| NM_000015.2:c.600A>G | NP_000006.2:p.Glu200= | |
| XM_011544358.1:c.600A>G | XP_011542660.1:p.Glu200= | |
| XM_017012938.1:c.600A>G | XP_016868427.1:p.Glu200= | |
| NM_000015.3:c.600A>G MANE Select | NP_000006.2:p.Glu200= |