Linked Data
dbSNP Id:
rs917201957
gnomAD v2:
4-79589115-A-G
gnomAD v3:
4-78667961-A-G
gnomAD v4:
4-78667961-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78667961A>G , CM000666.2:g.78667961A>G | GRCh38 |
| NC_000004.11:g.79589115A>G , CM000666.1:g.79589115A>G | GRCh37 |
| NC_000004.10:g.79808139A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038303.1:n.473+4950A>G | ||
| NR_038304.1:n.473+4950A>G | ||
| NR_038305.1:n.380-5382A>G | ||
| NR_038306.1:n.380-12800A>G | ||
| NR_038307.1:n.364+4950A>G | ||
| NR_038308.1:n.325+4989A>G |