Linked Data
dbSNP Id:
rs11743303
gnomAD v2:
5-55859952-A-G
gnomAD v3:
5-56564125-A-G
gnomAD v4:
5-56564125-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56564125A>G , CM000667.2:g.56564125A>G | GRCh38 |
| NC_000005.9:g.55859952A>G , CM000667.1:g.55859952A>G | GRCh37 |
| NC_000005.8:g.55895709A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000438651.5:c.-15-7938T>C | ENSP00000406718.1:n.-15-7938T>C | |
| NM_001287053.1:c.-15-7938T>C | NP_001273982.1:n.-15-7938T>C | |
| XM_017008942.1:c.-16+6253T>C | XP_016864431.1:n.-16+6253T>C | |
| NR_161255.1:n.236-7938T>C |