Linked Data
dbSNP Id:
rs778178457
ExAC:
8:21973813 C / A
gnomAD v2:
8-21973813-C-A
gnomAD v4:
8-22116300-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22116300C>A , CM000670.2:g.22116300C>A | GRCh38 |
| NC_000008.10:g.21973813C>A , CM000670.1:g.21973813C>A | GRCh37 |
| NC_000008.9:g.22029758C>A | NCBI36 |
| NG_008166.1:g.19218G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381418.9:c.3507G>T MANE Select | ENSP00000370826.4:p.Gln1169His | |
| ENST00000680789.1:c.3507G>T | ENSP00000505181.1:p.Gln1169His | |
| ENST00000312841.9:c.3342G>T | ENSP00000326765.8:p.Gln1114His | |
| ENST00000381418.8:c.3507G>T | ENSP00000370826.4:p.Gln1169His | |
| ENST00000522016.1:n.1700G>T | ||
| NM_005144.4:c.3507G>T | NP_005135.2:p.Gln1169His | |
| NM_018411.4:c.3342G>T | NP_060881.2:p.Gln1114His | |
| XM_005273569.1:c.3510G>T | XP_005273626.1:p.Gln1170His | |
| XM_006716367.1:c.3345G>T | XP_006716430.1:p.Gln1115His | |
| XM_005273569.2:c.3510G>T | XP_005273626.1:p.Gln1170His | |
| XM_006716367.2:c.3345G>T | XP_006716430.1:p.Gln1115His | |
| NM_005144.5:c.3507G>T MANE Select | NP_005135.2:p.Gln1169His |