Linked Data
ClinVar Variation Id:
318565
dbSNP Id:
rs149038393
ExAC:
16:2369609 G / A
gnomAD v2:
16-2369609-G-A
gnomAD v3:
16-2319608-G-A
gnomAD v4:
16-2319608-G-A
COSMIC:
COSM95746
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2319608G>A , CM000678.2:g.2319608G>A | GRCh38 |
| NC_000016.9:g.2369609G>A , CM000678.1:g.2369609G>A | GRCh37 |
| NC_000016.8:g.2309610G>A | NCBI36 |
| NG_011790.1:g.26139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.846C>T MANE Select | ENSP00000301732.5:p.Val282= | |
| ENST00000301732.9:c.846C>T | ENSP00000301732.5:p.Val282= | |
| ENST00000382381.7:c.846C>T | ENSP00000371818.3:p.Val282= | |
| ENST00000563623.5:n.1409C>T | ||
| NM_001089.2:c.846C>T | NP_001080.2:p.Val282= | |
| NM_001089.3:c.846C>T MANE Select | NP_001080.2:p.Val282= |