Linked Data
ClinVar Variation Id:
433165
ClinVar RCV Id:
RCV000498813
dbSNP Id:
rs759190203
ExAC:
6:10876675 T / TA
gnomAD v2:
6-10876675-T-TA
gnomAD v3:
6-10876442-T-TA
gnomAD v4:
6-10876442-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10876443dup , CM000668.2:g.10876443dup | GRCh38 |
| NC_000006.11:g.10876676dup , CM000668.1:g.10876676dup | GRCh37 |
| NC_000006.10:g.10984662dup | NCBI36 |
| NG_008970.1:g.10423dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379491.5:c.456+2dup MANE Select | ENSP00000368805.4:n.456+2dup | |
| ENST00000379491.4:c.456+2dup | ENSP00000368805.4:n.456+2dup | |
| ENST00000480294.1:c.101-15070dup | ENSP00000417929.1:n.101-15070dup | |
| NM_004752.3:c.456+2dup | NP_004743.1:n.456+2dup | |
| XM_011514991.1:c.456+2dup | XP_011513293.1:n.456+2dup | |
| NM_004752.4:c.456+2dup MANE Select | NP_004743.1:n.456+2dup |