Linked Data
ClinVar Variation Id:
2189612
ClinVar RCV Id:
RCV002636845
dbSNP Id:
rs139553536
ExAC:
19:41930371 G / A
gnomAD v2:
19-41930371-G-A
gnomAD v3:
19-41424466-G-A
gnomAD v4:
19-41424466-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424466G>A , CM000681.2:g.41424466G>A | GRCh38 |
| NC_000019.9:g.41930371G>A , CM000681.1:g.41930371G>A | GRCh37 |
| NC_000019.8:g.46622211G>A | NCBI36 |
| NG_013004.1:g.31678G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1196G>A MANE Select | ENSP00000269980.2:p.Arg399Gln | |
| ENST00000269980.6:c.1196G>A | ENSP00000269980.2:p.Arg399Gln | |
| ENST00000457836.6:c.1205G>A | ENSP00000416000.2:p.Arg402Gln | |
| ENST00000540732.3:c.1298G>A | ENSP00000443246.1:p.Arg433Gln | |
| ENST00000544905.1:c.62-36G>A | ||
| ENST00000595085.5:c.922+1769G>A | ENSP00000471150.2:n.922+1769G>A | |
| NM_000709.3:c.1196G>A | NP_000700.1:p.Arg399Gln | |
| NM_001164783.1:c.1193G>A | NP_001158255.1:p.Arg398Gln | |
| NM_000709.4:c.1196G>A MANE Select | NP_000700.1:p.Arg399Gln | |
| NM_001164783.2:c.1193G>A | NP_001158255.1:p.Arg398Gln |