Linked Data
ClinVar Variation Id:
1293822
ClinVar RCV Id:
RCV001715802
dbSNP Id:
rs73931479
gnomAD v2:
19-41916988-A-G
gnomAD v3:
19-41411083-A-G
gnomAD v4:
19-41411083-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41411083A>G , CM000681.2:g.41411083A>G | GRCh38 |
| NC_000019.9:g.41916988A>G , CM000681.1:g.41916988A>G | GRCh37 |
| NC_000019.8:g.46608828A>G | NCBI36 |
| NG_013004.1:g.18295A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.375+74A>G MANE Select | ENSP00000269980.2:n.375+74A>G | |
| ENST00000269980.6:c.375+74A>G | ENSP00000269980.2:n.375+74A>G | |
| ENST00000457836.6:c.309+74A>G | ENSP00000416000.2:n.309+74A>G | |
| ENST00000538423.5:n.501+74A>G | ||
| ENST00000540732.3:c.477+74A>G | ENSP00000443246.1:n.477+74A>G | |
| ENST00000541315.1:c.182+74A>G | ||
| ENST00000542943.5:c.288+267A>G | ENSP00000440345.1:n.288+267A>G | |
| ENST00000595085.5:c.375+74A>G | ENSP00000471150.2:n.375+74A>G | |
| NM_000709.3:c.375+74A>G | NP_000700.1:n.375+74A>G | |
| NM_001164783.1:c.375+74A>G | NP_001158255.1:n.375+74A>G | |
| NM_000709.4:c.375+74A>G MANE Select | NP_000700.1:n.375+74A>G | |
| NM_001164783.2:c.375+74A>G | NP_001158255.1:n.375+74A>G |