Linked Data
dbSNP Id:
rs12483148
gnomAD v2:
21-37013621-T-C
gnomAD v3:
21-35641323-T-C
gnomAD v4:
21-35641323-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.35641323T>C , CM000683.2:g.35641323T>C | GRCh38 |
| NC_000021.8:g.37013621T>C , CM000683.1:g.37013621T>C | GRCh37 |
| NC_000021.7:g.35935491T>C | NCBI36 |
| NG_011402.2:g.348388A>G , LRG_482:g.348388A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475045.6:c.-532+13497A>G | ENSP00000477072.1:n.-532+13497A>G |