Linked Data
ClinVar Variation Id:
2739285
ClinVar RCV Id:
RCV003555444
dbSNP Id:
rs750303584
ExAC:
16:2339543 G / A
gnomAD v2:
16-2339543-G-A
gnomAD v3:
16-2289542-G-A
gnomAD v4:
16-2289542-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2289542G>A , CM000678.2:g.2289542G>A | GRCh38 |
| NC_000016.9:g.2339543G>A , CM000678.1:g.2339543G>A | GRCh37 |
| NC_000016.8:g.2279544G>A | NCBI36 |
| NG_011790.1:g.56205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.2592C>T MANE Select | ENSP00000301732.5:p.Arg864= | |
| ENST00000301732.9:c.2592C>T | ENSP00000301732.5:p.Arg864= | |
| ENST00000382381.7:c.2418C>T | ENSP00000371818.3:p.Arg806= | |
| ENST00000563623.5:n.3155C>T | ||
| NM_001089.2:c.2592C>T | NP_001080.2:p.Arg864= | |
| NM_001089.3:c.2592C>T MANE Select | NP_001080.2:p.Arg864= |