Linked Data
dbSNP Id:
rs1474030536
gnomAD v2:
3-8775392-G-GC
gnomAD v3:
3-8733706-G-GC
gnomAD v4:
3-8733706-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8733707dup , CM000665.2:g.8733707dup | GRCh38 |
| NC_000003.11:g.8775393dup , CM000665.1:g.8775393dup | GRCh37 |
| NC_000003.10:g.8750393dup | NCBI36 |
| NG_008797.2:g.4898dup , LRG_329:g.4898dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435138.5:c.64+8752dup | ENSP00000412333.1:n.64+8752dup | |
| ENST00000478513.1:n.335+8752dup | ||
| XR_940435.1:n.330+8752dup | ||
| XM_017006530.1:c.-283+8752dup | XP_016862019.1:n.-283+8752dup |