Linked Data
dbSNP Id:
rs1948872799
gnomAD v3:
2-219060532-C-CGGGAGCGCTGCG
gnomAD v4:
2-219060532-C-CGGGAGCGCTGCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060536_219060547dup , CM000664.2:g.219060536_219060547dup | GRCh38 |
| NC_000002.11:g.219925258_219925269dup , CM000664.1:g.219925258_219925269dup | GRCh37 |
| NC_000002.10:g.219633502_219633513dup | NCBI36 |
| NG_016741.1:g.4973_4984dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.-77_-66dup MANE Select | ENSP00000295731.5:n.-77_-66dup | |
| NM_002181.4:c.-77_-66dup MANE Select | NP_002172.2:n.-77_-66dup |