Linked Data
dbSNP Id:
rs2281389
gnomAD v2:
6-33059796-A-G
gnomAD v3:
6-33092019-A-G
gnomAD v4:
6-33092019-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33092019A>G , CM000668.2:g.33092019A>G | GRCh38 |
| NC_000006.11:g.33059796A>G , CM000668.1:g.33059796A>G | GRCh37 |
| NC_000006.10:g.33167774A>G | NCBI36 |
| NG_033242.1:g.21094A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433582.1:n.582+100T>C |