Linked Data
dbSNP Id:
rs147826544
ExAC:
1:160851900 G / A
gnomAD v2:
1-160851900-G-A
gnomAD v3:
1-160882110-G-A
gnomAD v4:
1-160882110-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882110G>A , CM000663.2:g.160882110G>A | GRCh38 |
| NC_000001.10:g.160851900G>A , CM000663.1:g.160851900G>A | GRCh37 |
| NC_000001.9:g.159118524G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.252C>T MANE Select | ENSP00000323587.3:p.Ser84= | |
| ENST00000326245.3:c.252C>T | ENSP00000323587.3:p.Ser84= | |
| ENST00000464077.1:n.186C>T | ||
| NM_017625.2:c.252C>T | NP_060095.2:p.Ser84= | |
| NM_017625.3:c.252C>T MANE Select | NP_060095.2:p.Ser84= |