Linked Data
dbSNP Id:
rs754001866
ExAC:
5:131940603 T / TA
gnomAD v2:
5-131940603-T-TA
gnomAD v4:
5-132604911-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132604912dup , CM000667.2:g.132604912dup | GRCh38 |
| NC_000005.9:g.131940604dup , CM000667.1:g.131940604dup | GRCh37 |
| NC_000005.8:g.131968503dup | NCBI36 |
| NG_021151.1:g.52989dup | |
| NG_021151.2:g.52936dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2631dup MANE Select | ENSP00000368100.4:p.Ser878IlefsTer3 | |
| ENST00000638452.2:c.2334dup | ENSP00000492349.2:p.Ser779IlefsTer3 | |
| ENST00000638504.1:n.2239dup | ||
| ENST00000638568.2:c.2334dup | ENSP00000491158.2:p.Ser779IlefsTer3 | |
| ENST00000639899.1:n.3150dup | ||
| ENST00000640655.2:c.2334dup | ENSP00000491596.2:p.Ser779IlefsTer3 | |
| ENST00000651160.1:c.*775dup | ENSP00000498829.1:n.*775dup | |
| ENST00000651723.1:c.*2714dup | ENSP00000498237.1:n.*2714dup | |
| ENST00000652016.1:c.*848dup | ENSP00000498267.1:n.*848dup | |
| ENST00000652485.1:c.2664dup | ENSP00000498973.1:p.Ser889IlefsTer3 | |
| ENST00000378823.7:c.2631dup | ENSP00000368100.4:p.Ser878IlefsTer3 | |
| ENST00000423956.5:c.*817dup | ENSP00000390971.1:n.*817dup | |
| ENST00000533482.5:c.*2257dup | ENSP00000431225.1:n.*2257dup | |
| NM_005732.3:c.2631dup | NP_005723.2:p.Ser878IlefsTer3 | |
| NM_005732.4:c.2631dup MANE Select | NP_005723.2:p.Ser878IlefsTer3 |