Linked Data
dbSNP Id:
rs55692411
gnomAD v2:
3-49911155-G-A
gnomAD v3:
3-49873722-G-A
gnomAD v4:
3-49873722-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49873722G>A , CM000665.2:g.49873722G>A | GRCh38 |
| NC_000003.11:g.49911155G>A , CM000665.1:g.49911155G>A | GRCh37 |
| NC_000003.10:g.49886159G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423971.2:n.3584C>T | ||
| ENST00000423971.1:n.4259C>T |