Linked Data
ClinVar Variation Id:
297750
ClinVar RCV Id:
RCV000292133
dbSNP Id:
rs886046455
gnomAD v2:
1-59041142-T-TA
gnomAD v3:
1-58575470-T-TA
gnomAD v4:
1-58575470-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58575476dup , CM000663.2:g.58575476dup | GRCh38 |
| NC_000001.10:g.59041148dup , CM000663.1:g.59041148dup | GRCh37 |
| NC_000001.9:g.58813736dup | NCBI36 |
| NG_016237.1:g.7024dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.*714dup MANE Select | ENSP00000360269.2:n.*714dup | |
| ENST00000371225.3:c.*714dup | ENSP00000360269.2:n.*714dup | |
| NM_002353.2:c.*714dup | NP_002344.2:n.*714dup | |
| NM_002353.3:c.*714dup MANE Select | NP_002344.2:n.*714dup |