Linked Data
dbSNP Id:
rs772839476
ExAC:
1:160851916 C / T
gnomAD v2:
1-160851916-C-T
gnomAD v4:
1-160882126-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882126C>T , CM000663.2:g.160882126C>T | GRCh38 |
| NC_000001.10:g.160851916C>T , CM000663.1:g.160851916C>T | GRCh37 |
| NC_000001.9:g.159118540C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.236G>A MANE Select | ENSP00000323587.3:p.Trp79Ter | |
| ENST00000326245.3:c.236G>A | ENSP00000323587.3:p.Trp79Ter | |
| ENST00000464077.1:n.170G>A | ||
| NM_017625.2:c.236G>A | NP_060095.2:p.Trp79Ter | |
| NM_017625.3:c.236G>A MANE Select | NP_060095.2:p.Trp79Ter |