Linked Data
ClinVar Variation Id:
547031
ClinVar RCV Id:
RCV000659096
dbSNP Id:
rs764382843
ExAC:
8:10470349 A / ACT
gnomAD v2:
8-10470349-A-ACT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612847_10612848dup , CM000670.2:g.10612847_10612848dup | GRCh38 |
| NC_000008.10:g.10470357_10470358dup , CM000670.1:g.10470357_10470358dup | GRCh37 |
| NC_000008.9:g.10507767_10507768dup | NCBI36 |
| NG_028035.1:g.47267_47268dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1257_1258dup MANE Select | ENSP00000371923.3:p.Val420GlufsTer? | |
| ENST00000382483.3:c.1257_1258dup | ENSP00000371923.3:p.Val420GlufsTer? | |
| NM_178857.5:c.1257_1258dup | NP_849188.4:p.Val420GlufsTer? | |
| NM_178857.6:c.1257_1258dup MANE Select | NP_849188.4:p.Val420GlufsTer? |