Linked Data
dbSNP Id:
rs1173344027
gnomAD v2:
11-17656704-G-T
gnomAD v3:
11-17635157-G-T
gnomAD v4:
11-17635157-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17635157G>T , CM000673.2:g.17635157G>T | GRCh38 |
| NC_000011.9:g.17656704G>T , CM000673.1:g.17656704G>T | GRCh37 |
| NC_000011.8:g.17613280G>T | NCBI36 |
| NG_033191.1:g.92785G>T | |
| NG_033191.2:g.92785G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.7699G>T | ENSP00000382323.2:p.Gly2567Trp | |
| ENST00000399397.6:c.7663G>T MANE Select | ENSP00000382329.2:p.Gly2555Trp | |
| ENST00000342528.2:c.4322-453G>T | ENSP00000341666.2:n.4322-453G>T | |
| ENST00000399391.6:c.7699G>T | ENSP00000382323.2:p.Gly2567Trp | |
| ENST00000399397.5:c.7663G>T | ENSP00000382329.2:p.Gly2555Trp | |
| NM_001277269.1:c.7699G>T | NP_001264198.1:p.Gly2567Trp | |
| NM_001292063.1:c.7663G>T | NP_001278992.1:p.Gly2555Trp | |
| NM_001277269.2:c.7699G>T | NP_001264198.1:p.Gly2567Trp | |
| NM_001292063.2:c.7663G>T MANE Select | NP_001278992.1:p.Gly2555Trp |