Linked Data
dbSNP Id:
rs5270
gnomAD v2:
1-186649719-G-C
gnomAD v3:
1-186680587-G-C
gnomAD v4:
1-186680587-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186680587G>C , CM000663.2:g.186680587G>C | GRCh38 |
| NC_000001.10:g.186649719G>C , CM000663.1:g.186649719G>C | GRCh37 |
| NC_000001.9:g.184916342G>C | NCBI36 |
| NG_028206.2:g.4841C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000680451.1:c.-114+117C>G | ENSP00000506242.1:n.-114+117C>G |