Linked Data
dbSNP Id:
rs12994401
gnomAD v2:
2-52072246-C-T
gnomAD v3:
2-51845108-C-T
gnomAD v4:
2-51845108-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.51845108C>T , CM000664.2:g.51845108C>T | GRCh38 |
| NC_000002.11:g.52072246C>T , CM000664.1:g.52072246C>T | GRCh37 |
| NC_000002.10:g.51925750C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_245003.1:n.840-16341C>T | ||
| NR_135237.1:n.840-16341C>T |