Linked Data
dbSNP Id:
rs1039680831
gnomAD v2:
5-150240309-C-A
gnomAD v3:
5-150860747-C-A
gnomAD v4:
5-150860747-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150860747C>A , CM000667.2:g.150860747C>A | GRCh38 |
| NC_000005.9:g.150240309C>A , CM000667.1:g.150240309C>A | GRCh37 |
| NC_000005.8:g.150220502C>A | NCBI36 |
| NG_027809.2:g.19225C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000520549.1:c.158+12093C>A | ||
| XM_011537641.1:c.531+12093C>A | XP_011535943.1:n.531+12093C>A | |
| NM_001346557.1:c.531+12093C>A | NP_001333486.1:n.531+12093C>A | |
| NM_001346557.2:c.531+12093C>A | NP_001333486.1:n.531+12093C>A | |
| NR_170598.1:n.1646+12093C>A |