Linked Data
dbSNP Id:
rs936593650
gnomAD v2:
15-80445122-C-G
gnomAD v3:
15-80152780-C-G
gnomAD v4:
15-80152780-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152780C>G , CM000677.2:g.80152780C>G | GRCh38 |
| NC_000015.9:g.80445122C>G , CM000677.1:g.80445122C>G | GRCh37 |
| NC_000015.8:g.78232177C>G | NCBI36 |
| NG_012833.1:g.4782C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407106.5:c.-155C>G | ENSP00000385080.1:n.-155C>G | |
| ENST00000558022.5:c.-30+235C>G | ENSP00000453152.1:n.-30+235C>G |