Linked Data
ClinVar Variation Id:
1094584
ClinVar RCV Id:
RCV001415136
dbSNP Id:
rs3213861
gnomAD v2:
19-41919944-A-G
gnomAD v3:
19-41414039-A-G
gnomAD v4:
19-41414039-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41414039A>G , CM000681.2:g.41414039A>G | GRCh38 |
| NC_000019.9:g.41919944A>G , CM000681.1:g.41919944A>G | GRCh37 |
| NC_000019.8:g.46611784A>G | NCBI36 |
| NG_013004.1:g.21251A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.376-10A>G MANE Select | ENSP00000269980.2:n.376-10A>G | |
| ENST00000269980.6:c.376-10A>G | ENSP00000269980.2:n.376-10A>G | |
| ENST00000457836.6:c.310-10A>G | ENSP00000416000.2:n.310-10A>G | |
| ENST00000538423.5:n.502-10A>G | ||
| ENST00000540732.3:c.478-10A>G | ENSP00000443246.1:n.478-10A>G | |
| ENST00000541315.1:c.183-10A>G | ||
| ENST00000542943.5:c.289-10A>G | ENSP00000440345.1:n.289-10A>G | |
| ENST00000595085.5:c.376-10A>G | ENSP00000471150.2:n.376-10A>G | |
| NM_000709.3:c.376-10A>G | NP_000700.1:n.376-10A>G | |
| NM_001164783.1:c.376-10A>G | NP_001158255.1:n.376-10A>G | |
| NM_000709.4:c.376-10A>G MANE Select | NP_000700.1:n.376-10A>G | |
| NM_001164783.2:c.376-10A>G | NP_001158255.1:n.376-10A>G |