Linked Data
ClinVar Variation Id:
2777093
ClinVar RCV Id:
RCV003665124
dbSNP Id:
rs1311742999
gnomAD v2:
12-58159770-T-TG
gnomAD v4:
12-57765987-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765992dup , CM000674.2:g.57765992dup | GRCh38 |
| NC_000012.11:g.58159775dup , CM000674.1:g.58159775dup | GRCh37 |
| NC_000012.10:g.56446042dup | NCBI36 |
| NG_007076.1:g.6206dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.298+19dup | ||
| ENST00000713544.1:c.386+19dup | ENSP00000518840.1:n.386+19dup | |
| ENST00000713545.1:c.386+19dup | ENSP00000518841.1:n.386+19dup | |
| ENST00000228606.9:c.386+19dup MANE Select | ENSP00000228606.4:n.386+19dup | |
| ENST00000228606.8:c.386+19dup | ENSP00000228606.4:n.386+19dup | |
| ENST00000546496.1:n.214+19dup | ||
| ENST00000546609.1:c.298+19dup | ||
| ENST00000547344.5:n.440+19dup | ||
| ENST00000552186.1:n.505+19dup | ||
| NM_000785.3:c.386+19dup | NP_000776.1:n.386+19dup | |
| NM_000785.4:c.386+19dup MANE Select | NP_000776.1:n.386+19dup |