Linked Data
dbSNP Id:
rs1248212915
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22116096A>C , CM000671.2:g.22116096A>C | GRCh38 |
| NC_000009.11:g.22116095A>C , CM000671.1:g.22116095A>C | GRCh37 |
| NC_000009.10:g.22106095A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_003529.3:n.2908+2297A>C | ||
| NR_047532.1:n.1697+2297A>C | ||
| NR_047534.1:n.961+2297A>C | ||
| NR_047535.1:n.857-2548A>C | ||
| NR_047536.1:n.721-2548A>C | ||
| NR_047537.1:n.781-4104A>C | ||
| NR_047538.1:n.645-4104A>C | ||
| NR_047543.1:n.990+2297A>C | ||
| NR_120536.1:n.645-4408A>C |