Linked Data
ClinVar Variation Id:
318566
dbSNP Id:
rs201299260
ExAC:
16:2369617 G / A
gnomAD v2:
16-2369617-G-A
gnomAD v3:
16-2319616-G-A
gnomAD v4:
16-2319616-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2319616G>A , CM000678.2:g.2319616G>A | GRCh38 |
| NC_000016.9:g.2369617G>A , CM000678.1:g.2369617G>A | GRCh37 |
| NC_000016.8:g.2309618G>A | NCBI36 |
| NG_011790.1:g.26131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.838C>T MANE Select | ENSP00000301732.5:p.Arg280Cys | |
| ENST00000301732.9:c.838C>T | ENSP00000301732.5:p.Arg280Cys | |
| ENST00000382381.7:c.838C>T | ENSP00000371818.3:p.Arg280Cys | |
| ENST00000563623.5:n.1401C>T | ||
| NM_001089.2:c.838C>T | NP_001080.2:p.Arg280Cys | |
| NM_001089.3:c.838C>T MANE Select | NP_001080.2:p.Arg280Cys |