Linked Data
dbSNP Id:
rs11644561
gnomAD v2:
16-55509034-G-A
gnomAD v3:
16-55475122-G-A
gnomAD v4:
16-55475122-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55475122G>A , CM000678.2:g.55475122G>A | GRCh38 |
| NC_000016.9:g.55509034G>A , CM000678.1:g.55509034G>A | GRCh37 |
| NC_000016.8:g.54066535G>A | NCBI36 |
| NG_008989.1:g.954G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570308.5:c.-75-7787G>A | ENSP00000461421.1:n.-75-7787G>A |