Linked Data
dbSNP Id:
rs11867410
gnomAD v2:
17-64227363-T-C
gnomAD v3:
17-66231245-T-C
gnomAD v4:
17-66231245-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66231245T>C , CM000679.2:g.66231245T>C | GRCh38 |
| NC_000017.10:g.64227363T>C , CM000679.1:g.64227363T>C | GRCh37 |
| NC_000017.9:g.61657825T>C | NCBI36 |
| NG_012045.1:g.3194A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000577982.1:c.-43-1823A>G | ENSP00000464301.1:n.-43-1823A>G |