Linked Data
dbSNP Id:
rs1324513453
gnomAD v2:
1-160852184-G-A
gnomAD v3:
1-160882394-G-A
gnomAD v4:
1-160882394-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882394G>A , CM000663.2:g.160882394G>A | GRCh38 |
| NC_000001.10:g.160852184G>A , CM000663.1:g.160852184G>A | GRCh37 |
| NC_000001.9:g.159118808G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.158-190C>T MANE Select | ENSP00000323587.3:n.158-190C>T | |
| ENST00000326245.3:c.158-190C>T | ENSP00000323587.3:n.158-190C>T | |
| NM_017625.2:c.158-190C>T | NP_060095.2:n.158-190C>T | |
| NM_017625.3:c.158-190C>T MANE Select | NP_060095.2:n.158-190C>T |