Linked Data
ClinVar Variation Id:
447298
ClinVar RCV Id:
RCV000517343
dbSNP Id:
rs779468968
ExAC:
19:3977528 G / A
gnomAD v2:
19-3977528-G-A
gnomAD v3:
19-3977530-G-A
gnomAD v4:
19-3977530-G-A
COSMIC:
COSM3388975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3977530G>A , CM000681.2:g.3977530G>A | GRCh38 |
| NC_000019.9:g.3977528G>A , CM000681.1:g.3977528G>A | GRCh37 |
| NC_000019.8:g.3928528G>A | NCBI36 |
| NG_042274.1:g.12934C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309311.7:c.2148C>T MANE Select | ENSP00000307940.5:p.Arg716= | |
| ENST00000309311.6:c.2148C>T | ENSP00000307940.5:p.Arg716= | |
| ENST00000600794.1:c.107+498C>T | ||
| NM_001961.3:c.2148C>T | NP_001952.1:p.Arg716= | |
| NM_001961.4:c.2148C>T MANE Select | NP_001952.1:p.Arg716= |