Linked Data
dbSNP Id:
rs1435867
gnomAD v2:
2-229510929-T-C
gnomAD v3:
2-228646213-T-C
gnomAD v4:
2-228646213-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.228646213T>C , CM000664.2:g.228646213T>C | GRCh38 |
| NC_000002.11:g.229510929T>C , CM000664.1:g.229510929T>C | GRCh37 |
| NC_000002.10:g.229219173T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_923977.1:n.39+98430A>G |