Linked Data
dbSNP Id:
rs760518688
gnomAD v2:
2-241808089-G-A
gnomAD v3:
2-240868672-G-A
gnomAD v4:
2-240868672-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868672G>A , CM000664.2:g.240868672G>A | GRCh38 |
| NC_000002.11:g.241808089G>A , CM000664.1:g.241808089G>A | GRCh37 |
| NC_000002.10:g.241456762G>A | NCBI36 |
| NG_008005.1:g.4928G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.3:c.-194G>A | ENSP00000302620.3:n.-194G>A | |
| XR_924060.1:n.405+1561C>T |