Linked Data
dbSNP Id:
rs749996456
ExAC:
3:165548037 GT / G
gnomAD v2:
3-165548037-GT-G
gnomAD v4:
3-165830249-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830251del , CM000665.2:g.165830251del | GRCh38 |
| NC_000003.11:g.165548039del , CM000665.1:g.165548039del | GRCh37 |
| NC_000003.10:g.167030733del | NCBI36 |
| NG_009031.1:g.12216del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.784del MANE Select | ENSP00000264381.3:p.Thr262HisfsTer11 | |
| ENST00000264381.7:c.784del | ENSP00000264381.3:p.Thr262HisfsTer11 | |
| ENST00000479451.5:c.107+7064del | ENSP00000418325.1:n.107+7064del | |
| ENST00000482958.1:c.784del | ENSP00000419804.1:p.Thr262HisfsTer11 | |
| ENST00000488954.1:c.107+7064del | ENSP00000418504.1:n.107+7064del | |
| ENST00000497011.5:c.784del | ENSP00000419505.1:p.Thr262HisfsTer11 | |
| NM_000055.2:c.784del | NP_000046.1:p.Thr262HisfsTer11 | |
| XM_005247685.1:c.907del | XP_005247742.1:p.Thr303HisfsTer11 | |
| NM_000055.3:c.784del | NP_000046.1:p.Thr262HisfsTer11 | |
| NR_137635.1:n.159+7064del | ||
| NR_137636.1:n.951del | ||
| NM_000055.4:c.784del MANE Select | NP_000046.1:p.Thr262HisfsTer11 | |
| NR_137635.2:n.110+7064del | ||
| NR_137636.2:n.902del |