Linked Data
ClinVar Variation Id:
787641
dbSNP Id:
rs142584479
ExAC:
16:2327637 G / A
gnomAD v2:
16-2327637-G-A
gnomAD v3:
16-2277636-G-A
gnomAD v4:
16-2277636-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2277636G>A , CM000678.2:g.2277636G>A | GRCh38 |
| NC_000016.9:g.2327637G>A , CM000678.1:g.2327637G>A | GRCh37 |
| NC_000016.8:g.2267638G>A | NCBI36 |
| NG_011790.1:g.68111C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4944C>T MANE Select | ENSP00000301732.5:p.Val1648= | |
| ENST00000301732.9:c.4944C>T | ENSP00000301732.5:p.Val1648= | |
| ENST00000382381.7:c.4770C>T | ENSP00000371818.3:p.Val1590= | |
| NM_001089.2:c.4944C>T | NP_001080.2:p.Val1648= | |
| NM_001089.3:c.4944C>T MANE Select | NP_001080.2:p.Val1648= |