Linked Data
dbSNP Id:
rs1319013220
gnomAD v2:
11-71954673-C-A
gnomAD v3:
11-72243629-C-A
gnomAD v4:
11-72243629-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72243629C>A , CM000673.2:g.72243629C>A | GRCh38 |
| NC_000011.9:g.71954673C>A , CM000673.1:g.71954673C>A | GRCh37 |
| NC_000011.8:g.71632321C>A | NCBI36 |
| NG_008169.1:g.5548G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298231.5:c.217+159G>T MANE Select | ENSP00000298231.5:n.217+159G>T | |
| ENST00000544057.1:n.85+1951G>T | ||
| NM_005169.3:c.217+159G>T | NP_005160.2:n.217+159G>T | |
| NM_005169.4:c.217+159G>T MANE Select | NP_005160.2:n.217+159G>T |