Linked Data
dbSNP Id:
rs764777475
ExAC:
16:2376177 C / A
gnomAD v2:
16-2376177-C-A
gnomAD v4:
16-2326176-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2326176C>A , CM000678.2:g.2326176C>A | GRCh38 |
| NC_000016.9:g.2376177C>A , CM000678.1:g.2376177C>A | GRCh37 |
| NC_000016.8:g.2316178C>A | NCBI36 |
| NG_011790.1:g.19571G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.153G>T MANE Select | ENSP00000301732.5:p.Val51= | |
| ENST00000301732.9:c.153G>T | ENSP00000301732.5:p.Val51= | |
| ENST00000382381.7:c.153G>T | ENSP00000371818.3:p.Val51= | |
| ENST00000563623.5:n.716G>T | ||
| ENST00000567910.1:c.153G>T | ENSP00000454397.1:p.Val51= | |
| NM_001089.2:c.153G>T | NP_001080.2:p.Val51= | |
| NM_001089.3:c.153G>T MANE Select | NP_001080.2:p.Val51= |