Linked Data
dbSNP Id:
rs55700793
ExAC:
8:18258279 A / G
gnomAD v2:
8-18258279-A-G
gnomAD v3:
8-18400769-A-G
gnomAD v4:
8-18400769-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400769A>G , CM000670.2:g.18400769A>G | GRCh38 |
| NC_000008.10:g.18258279A>G , CM000670.1:g.18258279A>G | GRCh37 |
| NC_000008.9:g.18302559A>G | NCBI36 |
| NG_012246.1:g.14525A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286479.4:c.766A>G MANE Select | ENSP00000286479.3:p.Lys256Glu | |
| ENST00000286479.3:c.766A>G | ENSP00000286479.3:p.Lys256Glu | |
| ENST00000520116.1:c.376A>G | ENSP00000428416.1:p.Lys126Glu | |
| NM_000015.2:c.766A>G | NP_000006.2:p.Lys256Glu | |
| XM_011544358.1:c.766A>G | XP_011542660.1:p.Lys256Glu | |
| XM_017012938.1:c.766A>G | XP_016868427.1:p.Lys256Glu | |
| NM_000015.3:c.766A>G MANE Select | NP_000006.2:p.Lys256Glu |