Linked Data
dbSNP Id:
rs1565641002
gnomAD v2:
12-53045771-G-GC
gnomAD v4:
12-52651987-G-GC
MyVariant Identifiers:
chr12:g.53045771_53045772insC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651992dup , CM000674.2:g.52651992dup | GRCh38 |
| NC_000012.11:g.53045776dup , CM000674.1:g.53045776dup | GRCh37 |
| NC_000012.10:g.51332043dup | NCBI36 |
| NG_008296.1:g.5188dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.155dup MANE Select | ENSP00000310861.3:p.Phe53LeufsTer23 | |
| ENST00000309680.3:c.155dup | ENSP00000310861.3:p.Phe53LeufsTer23 | |
| NM_000423.2:c.155dup | NP_000414.2:p.Phe53LeufsTer23 | |
| NM_000423.3:c.155dup MANE Select | NP_000414.2:p.Phe53LeufsTer23 |