Linked Data
ClinVar Variation Id:
1164426
ClinVar RCV Id:
RCV001510311
dbSNP Id:
rs781675282
ExAC:
1:216040530 T / TA
gnomAD v2:
1-216040530-T-TA
gnomAD v3:
1-215867188-T-TA
gnomAD v4:
1-215867188-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867195dup , CM000663.2:g.215867195dup | GRCh38 |
| NC_000001.10:g.216040537dup , CM000663.1:g.216040537dup | GRCh37 |
| NC_000001.9:g.214107160dup | NCBI36 |
| NG_009497.1:g.561208dup | |
| NG_009497.2:g.561260dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8682-19dup MANE Select | ENSP00000305941.3:n.8682-19dup | |
| ENST00000674083.1:c.8682-19dup | ENSP00000501296.1:n.8682-19dup | |
| ENST00000307340.7:c.8682-19dup | ENSP00000305941.3:n.8682-19dup | |
| NM_206933.2:c.8682-19dup | NP_996816.2:n.8682-19dup | |
| NM_206933.3:c.8682-19dup | NP_996816.2:n.8682-19dup | |
| NM_206933.4:c.8682-19dup MANE Select | NP_996816.3:n.8682-19dup |