Linked Data
ClinVar Variation Id:
2062315
ClinVar RCV Id:
RCV002953347
dbSNP Id:
rs8192895
ExAC:
8:65537104 G / GAA
gnomAD v2:
8-65537104-G-GAA
gnomAD v4:
8-64624547-G-GAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64624557_64624558dup , CM000670.2:g.64624557_64624558dup | GRCh38 |
| NC_000008.10:g.65537114_65537115dup , CM000670.1:g.65537114_65537115dup | GRCh37 |
| NC_000008.9:g.65699668_65699669dup | NCBI36 |
| NG_008338.1:g.179243_179244dup | |
| NG_008338.2:g.179243_179244dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.123-10_123-9dup MANE Select | ENSP00000310721.3:n.123-10_123-9dup | |
| ENST00000310193.3:c.123-10_123-9dup | ENSP00000310721.3:n.123-10_123-9dup | |
| NM_004820.3:c.123-10_123-9dup | NP_004811.1:n.123-10_123-9dup | |
| NM_001324112.1:c.123-10_123-9dup | NP_001311041.1:n.123-10_123-9dup | |
| NM_004820.4:c.123-10_123-9dup | NP_004811.1:n.123-10_123-9dup | |
| XM_017014002.1:c.189-10_189-9dup | XP_016869491.1:n.189-10_189-9dup | |
| NM_004820.5:c.123-10_123-9dup MANE Select | NP_004811.1:n.123-10_123-9dup | |
| NM_001324112.2:c.123-10_123-9dup | NP_001311041.1:n.123-10_123-9dup |