Linked Data
dbSNP Id:
rs1267588175
gnomAD v2:
11-102656500-T-A
gnomAD v3:
11-102785769-T-A
gnomAD v4:
11-102785769-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102785769T>A , CM000673.2:g.102785769T>A | GRCh38 |
| NC_000011.9:g.102656500T>A , CM000673.1:g.102656500T>A | GRCh37 |
| NC_000011.8:g.102161710T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371455.7:n.325-12255T>A | ||
| ENST00000525739.6:n.389+1705T>A | ||
| ENST00000544704.1:n.344+1705T>A | ||
| NR_038390.1:n.389+1705T>A |