Linked Data
dbSNP Id:
rs1176551753
gnomAD v2:
11-55579042-A-G
gnomAD v3:
11-55811566-A-G
gnomAD v4:
11-55811566-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55811566A>G , CM000673.2:g.55811566A>G | GRCh38 |
| NC_000011.9:g.55579042A>G , CM000673.1:g.55579042A>G | GRCh37 |
| NC_000011.8:g.55335618A>G | NCBI36 |
| NG_052620.1:g.5200A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.100A>G MANE Select | ENSP00000485319.1:p.Ile34Val | |
| ENST00000333973.3:c.100A>G | ENSP00000335529.2:p.Ile34Val | |
| ENST00000623450.1:c.100A>G | ENSP00000485509.1:p.Ile34Val | |
| ENST00000625203.1:c.100A>G | ENSP00000485319.1:p.Ile34Val | |
| NM_001004738.1:c.100A>G | NP_001004738.1:p.Ile34Val | |
| NM_001004738.2:c.100A>G MANE Select | NP_001004738.1:p.Ile34Val |