Linked Data
ClinVar Variation Id:
1606426
ClinVar RCV Id:
RCV002137738
dbSNP Id:
rs2122150496
gnomAD v4:
19-41424449-C-G
MyVariant Identifiers:
chr19:g.41930354C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424449C>G , CM000681.2:g.41424449C>G | GRCh38 |
| NC_000019.9:g.41930354C>G , CM000681.1:g.41930354C>G | GRCh37 |
| NC_000019.8:g.46622194C>G | NCBI36 |
| NG_013004.1:g.31661C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1179C>G MANE Select | ENSP00000269980.2:p.Ala393= | |
| ENST00000269980.6:c.1179C>G | ENSP00000269980.2:p.Ala393= | |
| ENST00000457836.6:c.1188C>G | ENSP00000416000.2:p.Ala396= | |
| ENST00000540732.3:c.1281C>G | ENSP00000443246.1:p.Ala427= | |
| ENST00000544905.1:c.62-53C>G | ||
| ENST00000595085.5:c.922+1752C>G | ENSP00000471150.2:n.922+1752C>G | |
| NM_000709.3:c.1179C>G | NP_000700.1:p.Ala393= | |
| NM_001164783.1:c.1176C>G | NP_001158255.1:p.Ala392= | |
| NM_000709.4:c.1179C>G MANE Select | NP_000700.1:p.Ala393= | |
| NM_001164783.2:c.1176C>G | NP_001158255.1:p.Ala392= |