Linked Data
ClinVar Variation Id:
370192
dbSNP Id:
rs768245266
ExAC:
7:107323796 T / TG
gnomAD v2:
7-107323796-T-TG
gnomAD v3:
7-107683351-T-TG
gnomAD v4:
7-107683351-T-TG
MyVariant Identifiers:
chr7:g.107323797dupG (hg19)
chr7:g.107323796_107323797insG (hg19)
chr7:g.107683352dupG (hg38)
chr7:g.107683351_107683352insG (hg38)
PubMed:
PMID:17718863
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107683352dup , CM000669.2:g.107683352dup | GRCh38 |
| NC_000007.13:g.107323797dup , CM000669.1:g.107323797dup | GRCh37 |
| NC_000007.12:g.107111033dup | NCBI36 |
| NG_008489.1:g.27718dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.916dup MANE Select | ENSP00000494017.1:p.Val306GlyfsTer24 | |
| ENST00000265715.7:c.916dup | ENSP00000265715.3:p.Val306GlyfsTer24 | |
| NM_000441.1:c.916dup | NP_000432.1:p.Val306GlyfsTer24 | |
| XM_005250425.1:c.916dup | XP_005250482.1:p.Val306GlyfsTer24 | |
| XM_006716025.2:c.916dup | XP_006716088.1:p.Val306GlyfsTer24 | |
| XM_005250425.2:c.916dup | XP_005250482.1:p.Val306GlyfsTer24 | |
| XM_006716025.3:c.916dup | XP_006716088.1:p.Val306GlyfsTer24 | |
| XM_017012318.1:c.916dup | XP_016867807.1:p.Val306GlyfsTer24 | |
| NM_000441.2:c.916dup MANE Select | NP_000432.1:p.Val306GlyfsTer24 |