Linked Data
ClinVar Variation Id:
1164842
ClinVar RCV Id:
RCV001511343
dbSNP Id:
rs775872328
ExAC:
1:209792012 A / AC
gnomAD v2:
1-209792012-A-AC
gnomAD v3:
1-209618667-A-AC
gnomAD v4:
1-209618667-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209618668dup , CM000663.2:g.209618668dup | GRCh38 |
| NC_000001.10:g.209792013dup , CM000663.1:g.209792013dup | GRCh37 |
| NC_000001.9:g.207858636dup | NCBI36 |
| NG_007116.1:g.38808dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.2702-9dup MANE Select | ENSP00000348384.3:n.2702-9dup | |
| ENST00000356082.8:c.2702-9dup | ENSP00000348384.3:n.2702-9dup | |
| ENST00000367030.7:c.2702-9dup | ENSP00000355997.3:n.2702-9dup | |
| ENST00000391911.5:c.2702-9dup | ENSP00000375778.1:n.2702-9dup | |
| ENST00000455193.1:c.-101dup | ENSP00000398683.1:n.-101dup | |
| NM_000228.2:c.2702-9dup | NP_000219.2:n.2702-9dup | |
| NM_001017402.1:c.2702-9dup | NP_001017402.1:n.2702-9dup | |
| NM_001127641.1:c.2702-9dup | NP_001121113.1:n.2702-9dup | |
| XM_005273124.3:c.2702-9dup | XP_005273181.1:n.2702-9dup | |
| XM_005273124.4:c.2702-9dup | XP_005273181.1:n.2702-9dup | |
| XM_017001272.2:c.2510-9dup | XP_016856761.1:n.2510-9dup | |
| NM_000228.3:c.2702-9dup MANE Select | NP_000219.2:n.2702-9dup | |
| NM_001017402.2:c.2702-9dup | NP_001017402.1:n.2702-9dup |