Linked Data
ClinVar Variation Id:
1529934
ClinVar RCV Id:
RCV002089461
dbSNP Id:
rs775216906
ExAC:
1:100341025 G / GT
gnomAD v2:
1-100341025-G-GT
gnomAD v3:
1-99875469-G-GT
gnomAD v4:
1-99875469-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99875477dup , CM000663.2:g.99875477dup | GRCh38 |
| NC_000001.10:g.100341033dup , CM000663.1:g.100341033dup | GRCh37 |
| NC_000001.9:g.100113621dup | NCBI36 |
| NG_012865.1:g.30394dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.1283+22dup MANE Select | ENSP00000355106.3:n.1283+22dup | |
| ENST00000637337.1:n.1494+22dup | ||
| ENST00000294724.8:c.1283+22dup | ENSP00000294724.4:n.1283+22dup | |
| ENST00000361302.7:c.1235+22dup | ENSP00000354971.3:n.1235+22dup | |
| ENST00000361522.4:c.1232+22dup | ENSP00000354635.4:n.1232+22dup | |
| ENST00000361915.7:c.1283+22dup | ENSP00000355106.3:n.1283+22dup | |
| ENST00000370161.6:c.1235+22dup | ENSP00000359180.2:n.1235+22dup | |
| ENST00000370163.7:c.1283+22dup | ENSP00000359182.3:n.1283+22dup | |
| ENST00000370165.7:c.1283+22dup | ENSP00000359184.3:n.1283+22dup | |
| ENST00000477753.1:n.542+22dup | ||
| NM_000028.2:c.1283+22dup | NP_000019.2:n.1283+22dup | |
| NM_000642.2:c.1283+22dup | NP_000633.2:n.1283+22dup | |
| NM_000643.2:c.1283+22dup | NP_000634.2:n.1283+22dup | |
| NM_000644.2:c.1283+22dup | NP_000635.2:n.1283+22dup | |
| NM_000645.2:c.1232+22dup | NP_000636.2:n.1232+22dup | |
| NM_000646.2:c.1235+22dup | NP_000637.2:n.1235+22dup | |
| XM_005270557.1:c.1283+22dup | XP_005270614.1:n.1283+22dup | |
| XM_005270557.2:c.1283+22dup | XP_005270614.1:n.1283+22dup | |
| NM_000642.3:c.1283+22dup MANE Select | NP_000633.2:n.1283+22dup |