Linked Data
ClinVar Variation Id:
1567419
ClinVar RCV Id:
RCV002214815
dbSNP Id:
rs1234860232
gnomAD v2:
19-41930432-G-A
gnomAD v3:
19-41424527-G-A
gnomAD v4:
19-41424527-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424527G>A , CM000681.2:g.41424527G>A | GRCh38 |
| NC_000019.9:g.41930432G>A , CM000681.1:g.41930432G>A | GRCh37 |
| NC_000019.8:g.46622272G>A | NCBI36 |
| NG_013004.1:g.31739G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1257G>A MANE Select | ENSP00000269980.2:p.Gln419= | |
| ENST00000269980.6:c.1257G>A | ENSP00000269980.2:p.Gln419= | |
| ENST00000457836.6:c.1266G>A | ENSP00000416000.2:p.Gln422= | |
| ENST00000540732.3:c.1359G>A | ENSP00000443246.1:p.Gln453= | |
| ENST00000544905.1:c.87G>A | ||
| ENST00000595085.5:c.922+1830G>A | ENSP00000471150.2:n.922+1830G>A | |
| NM_000709.3:c.1257G>A | NP_000700.1:p.Gln419= | |
| NM_001164783.1:c.1254G>A | NP_001158255.1:p.Gln418= | |
| NM_000709.4:c.1257G>A MANE Select | NP_000700.1:p.Gln419= | |
| NM_001164783.2:c.1254G>A | NP_001158255.1:p.Gln418= |