Linked Data
dbSNP Id:
rs769638853
ExAC:
4:100341840 G / GA
gnomAD v2:
4-100341840-G-GA
gnomAD v3:
4-99420683-G-GA
gnomAD v4:
4-99420683-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420683_99420684insA , CM000666.2:g.99420683_99420684insA | GRCh38 |
| NC_000004.11:g.100341840_100341841insA , CM000666.1:g.100341840_100341841insA | GRCh37 |
| NC_000004.10:g.100560863_100560864insA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.674_675insT MANE Select | ENSP00000414254.2:p.Lys226GlnfsTer5 | |
| ENST00000209665.8:c.710_711insT | ENSP00000209665.4:p.Lys238GlnfsTer5 | |
| ENST00000437033.6:c.674_675insT | ENSP00000414254.2:p.Lys226GlnfsTer5 | |
| ENST00000476959.5:c.734_735insT | ENSP00000420269.1:p.Lys246GlnfsTer5 | |
| ENST00000482593.5:c.503_504insT | ENSP00000420613.1:p.Lys169GlnfsTer5 | |
| NM_000673.4:c.710_711insT | NP_000664.2:p.Lys238GlnfsTer5 | |
| NM_001166504.1:c.734_735insT | NP_001159976.1:p.Lys246GlnfsTer5 | |
| NM_000673.7:c.674_675insT MANE Select | NP_000664.3:p.Lys226GlnfsTer5 | |
| NM_001166504.2:c.734_735insT | NP_001159976.1:p.Lys246GlnfsTer5 |