Linked Data
dbSNP Id:
rs4581712
gnomAD v2:
16-80497601-C-A
gnomAD v3:
16-80463704-C-A
gnomAD v4:
16-80463704-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.80463704C>A , CM000678.2:g.80463704C>A | GRCh38 |
| NC_000016.9:g.80497601C>A , CM000678.1:g.80497601C>A | GRCh37 |
| NC_000016.8:g.79055102C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_120307.1:n.252+64938G>T |