Linked Data
ClinVar Variation Id:
2887274
ClinVar RCV Id:
RCV003635885
gnomAD v4:
19-41424479-C-G
MyVariant Identifiers:
chr19:g.41930384C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424479C>G , CM000681.2:g.41424479C>G | GRCh38 |
| NC_000019.9:g.41930384C>G , CM000681.1:g.41930384C>G | GRCh37 |
| NC_000019.8:g.46622224C>G | NCBI36 |
| NG_013004.1:g.31691C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1209C>G MANE Select | ENSP00000269980.2:p.Pro403= | |
| ENST00000269980.6:c.1209C>G | ENSP00000269980.2:p.Pro403= | |
| ENST00000457836.6:c.1218C>G | ENSP00000416000.2:p.Pro406= | |
| ENST00000540732.3:c.1311C>G | ENSP00000443246.1:p.Pro437= | |
| ENST00000544905.1:c.62-23C>G | ||
| ENST00000595085.5:c.922+1782C>G | ENSP00000471150.2:n.922+1782C>G | |
| NM_000709.3:c.1209C>G | NP_000700.1:p.Pro403= | |
| NM_001164783.1:c.1206C>G | NP_001158255.1:p.Pro402= | |
| NM_000709.4:c.1209C>G MANE Select | NP_000700.1:p.Pro403= | |
| NM_001164783.2:c.1206C>G | NP_001158255.1:p.Pro402= |