Linked Data
dbSNP Id:
rs1241137047
gnomAD v2:
17-4534896-T-TA
gnomAD v3:
17-4631601-T-TA
gnomAD v4:
17-4631601-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4631602dup , CM000679.2:g.4631602dup | GRCh38 |
| NC_000017.10:g.4534897dup , CM000679.1:g.4534897dup | GRCh37 |
| NC_000017.9:g.4481646dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.1987dup MANE Select | ENSP00000293761.3:p.Ter663LeuextTer? | |
| ENST00000570836.6:c.1987dup | ENSP00000458832.1:p.Ter663LeuextTer? | |
| ENST00000293761.7:c.1987dup | ENSP00000293761.3:p.Ter663LeuextTer? | |
| ENST00000570836.5:c.1987dup | ENSP00000458832.1:p.Ter663LeuextTer? | |
| ENST00000574640.1:c.1870dup | ENSP00000460483.1:p.Ter624LeuextTer? | |
| NM_001140.3:c.1987dup | NP_001131.3:p.Ter663LeuextTer? | |
| NM_001140.4:c.1987dup | NP_001131.3:p.Ter663LeuextTer? | |
| NM_001140.5:c.1987dup MANE Select | NP_001131.3:p.Ter663LeuextTer? |