Linked Data
dbSNP Id:
rs1479611218
gnomAD v2:
12-56435734-A-G
gnomAD v3:
12-56041950-A-G
gnomAD v4:
12-56041950-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041950A>G , CM000674.2:g.56041950A>G | GRCh38 |
| NC_000012.11:g.56435734A>G , CM000674.1:g.56435734A>G | GRCh37 |
| NC_000012.10:g.54722001A>G | NCBI36 |
| NG_023201.1:g.5049A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-217A>G | ENSP00000348849.5:n.-217A>G | |
| ENST00000646449.2:c.-217A>G MANE Select | ENSP00000496643.1:n.-217A>G | |
| ENST00000356464.9:c.-217A>G | ENSP00000348849.5:n.-217A>G | |
| ENST00000552361.1:c.-149A>G | ENSP00000450339.1:n.-149A>G | |
| NM_001029.3:c.-217A>G | NP_001020.2:n.-217A>G | |
| NM_001029.5:c.-217A>G MANE Select | NP_001020.2:n.-217A>G | |
| XR_944989.3:n.54T>C | ||
| XR_944990.3:n.54T>C |