Linked Data
dbSNP Id:
rs12422267
gnomAD v2:
12-132601596-A-G
gnomAD v3:
12-132117051-A-G
gnomAD v4:
12-132117051-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132117051A>G , CM000674.2:g.132117051A>G | GRCh38 |
| NC_000012.11:g.132601596A>G , CM000674.1:g.132601596A>G | GRCh37 |
| NC_000012.10:g.131167549A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000641289.3:n.1577+1760A>G | ||
| ENST00000332441.7:c.*51+2506A>G | ENSP00000328997.3:n.*51+2506A>G | |
| ENST00000446190.5:c.*16+2506A>G | ENSP00000396499.1:n.*16+2506A>G | |
| ENST00000488030.5:n.441+2506A>G | ||
| NR_003290.2:n.471+2506A>G |