Linked Data
ClinVar Variation Id:
507808
ClinVar RCV Id:
RCV000611917
dbSNP Id:
rs757939381
ExAC:
1:63885020 T / TC
gnomAD v2:
1-63885020-T-TC
gnomAD v3:
1-63419349-T-TC
gnomAD v4:
1-63419349-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63419356dup , CM000663.2:g.63419356dup | GRCh38 |
| NC_000001.10:g.63885027dup , CM000663.1:g.63885027dup | GRCh37 |
| NC_000001.9:g.63657615dup | NCBI36 |
| NG_008925.2:g.56767dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263440.6:c.988-14dup MANE Select | ENSP00000263440.5:n.988-14dup | |
| ENST00000603108.6:c.*137-14dup | ENSP00000473934.2:n.*137-14dup | |
| ENST00000647818.1:c.*294-14dup | ENSP00000497667.1:n.*294-14dup | |
| ENST00000648964.1:c.*717-14dup | ENSP00000497828.1:n.*717-14dup | |
| ENST00000649570.1:c.*410-14dup | ENSP00000497742.1:n.*410-14dup | |
| ENST00000650494.1:c.*345-14dup | ENSP00000497170.1:n.*345-14dup | |
| ENST00000263440.4:c.994-14dup | ENSP00000263440.4:n.994-14dup | |
| ENST00000371108.8:c.988-14dup | ENSP00000360149.4:n.988-14dup | |
| ENST00000465969.5:n.577-14dup | ||
| ENST00000603108.5:c.*66-14dup | ENSP00000473934.1:n.*66-14dup | |
| NM_013339.3:c.988-14dup | NP_037471.2:n.988-14dup | |
| NM_013339.4:c.988-14dup MANE Select | NP_037471.2:n.988-14dup |