Linked Data
dbSNP Id:
rs756518126
ExAC:
1:94506788 G / C
gnomAD v2:
1-94506788-G-C
gnomAD v4:
1-94041232-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041232G>C , CM000663.2:g.94041232G>C | GRCh38 |
| NC_000001.10:g.94506788G>C , CM000663.1:g.94506788G>C | GRCh37 |
| NC_000001.9:g.94279376G>C | NCBI36 |
| NG_009073.1:g.84918C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.3499C>G MANE Select | ENSP00000359245.3:p.Gln1167Glu | |
| ENST00000370225.3:c.3499C>G | ENSP00000359245.3:p.Gln1167Glu | |
| ENST00000536513.5:c.-64-1143C>G | ENSP00000439707.2:n.-64-1143C>G | |
| NM_000350.2:c.3499C>G | NP_000341.2:p.Gln1167Glu | |
| NM_000350.3:c.3499C>G MANE Select | NP_000341.2:p.Gln1167Glu |