Linked Data
ClinVar Variation Id:
1633179
ClinVar RCV Id:
RCV002142556
dbSNP Id:
rs761790873
gnomAD v2:
7-103163821-G-GA
gnomAD v4:
7-103523374-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103523381dup , CM000669.2:g.103523381dup | GRCh38 |
| NC_000007.13:g.103163828dup , CM000669.1:g.103163828dup | GRCh37 |
| NC_000007.12:g.102951064dup | NCBI36 |
| NG_011877.1:g.471142dup | |
| NG_011877.2:g.471142dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.7490+16dup | ENSP00000388446.3:n.7490+16dup | |
| ENST00000428762.6:c.7490+16dup MANE Select | ENSP00000392423.1:n.7490+16dup | |
| ENST00000478148.2:n.747dup | ||
| ENST00000679867.1:n.7374+16dup | ||
| ENST00000679952.1:n.1418+16dup | ||
| ENST00000681034.1:c.7490+16dup | ENSP00000506075.1:n.7490+16dup | |
| ENST00000681364.1:n.739+16dup | ||
| ENST00000343529.9:c.7490+16dup | ENSP00000345694.5:n.7490+16dup | |
| ENST00000424685.2:c.7490+16dup | ENSP00000388446.2:n.7490+16dup | |
| ENST00000428762.5:c.7490+16dup | ENSP00000392423.1:n.7490+16dup | |
| NM_005045.3:c.7490+16dup | NP_005036.2:n.7490+16dup | |
| NM_173054.2:c.7490+16dup | NP_774959.1:n.7490+16dup | |
| NM_005045.4:c.7490+16dup MANE Select | NP_005036.2:n.7490+16dup | |
| NM_173054.3:c.7490+16dup | NP_774959.1:n.7490+16dup |