Linked Data
ClinVar Variation Id:
1111115
ClinVar RCV Id:
RCV001437558
dbSNP Id:
rs2123253682
gnomAD v4:
19-41410651-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41410651G>A , CM000681.2:g.41410651G>A | GRCh38 |
| NC_000019.9:g.41916556G>A , CM000681.1:g.41916556G>A | GRCh37 |
| NC_000019.8:g.46608396G>A | NCBI36 |
| NG_013004.1:g.17863G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.123G>A MANE Select | ENSP00000269980.2:p.Gln41= | |
| ENST00000269980.6:c.123G>A | ENSP00000269980.2:p.Gln41= | |
| ENST00000457836.6:c.58-1G>A | ENSP00000416000.2:n.58-1G>A | |
| ENST00000538423.5:n.143G>A | ||
| ENST00000540732.3:c.225G>A | ENSP00000443246.1:p.Gln75= | |
| ENST00000542943.5:c.123G>A | ENSP00000440345.1:p.Gln41= | |
| ENST00000595085.5:c.123G>A | ENSP00000471150.2:p.Gln41= | |
| ENST00000604424.1:n.365G>A | ||
| NM_000709.3:c.123G>A | NP_000700.1:p.Gln41= | |
| NM_001164783.1:c.123G>A | NP_001158255.1:p.Gln41= | |
| NM_000709.4:c.123G>A MANE Select | NP_000700.1:p.Gln41= | |
| NM_001164783.2:c.123G>A | NP_001158255.1:p.Gln41= |