Linked Data
dbSNP Id:
rs112990290
gnomAD v2:
17-80685352-G-T
gnomAD v3:
17-82727476-G-T
gnomAD v4:
17-82727476-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82727476G>T , CM000679.2:g.82727476G>T | GRCh38 |
| NC_000017.10:g.80685352G>T , CM000679.1:g.80685352G>T | GRCh37 |
| NC_000017.9:g.78278641G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269373.11:c.*305G>T MANE Select | ENSP00000269373.6:n.*305G>T | |
| ENST00000269373.10:c.*305G>T | ENSP00000269373.6:n.*305G>T | |
| ENST00000571594.1:c.53+309G>T | ENSP00000459751.1:n.53+309G>T | |
| ENST00000574832.5:c.*1192G>T | ENSP00000460869.1:n.*1192G>T | |
| NM_024619.3:c.*305G>T | NP_078895.2:n.*305G>T | |
| NR_046408.1:n.1413G>T | ||
| XM_024450948.1:c.*305G>T | XP_024306716.1:n.*305G>T | |
| NM_024619.4:c.*305G>T MANE Select | NP_078895.2:n.*305G>T | |
| NR_046408.2:n.1413G>T |