Linked Data
ClinVar Variation Id:
1558560
ClinVar RCV Id:
RCV002200011
dbSNP Id:
rs2122150692
MyVariant Identifiers:
chr19:g.41930390C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424485C>A , CM000681.2:g.41424485C>A | GRCh38 |
| NC_000019.9:g.41930390C>A , CM000681.1:g.41930390C>A | GRCh37 |
| NC_000019.8:g.46622230C>A | NCBI36 |
| NG_013004.1:g.31697C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1215C>A MANE Select | ENSP00000269980.2:p.Pro405= | |
| ENST00000269980.6:c.1215C>A | ENSP00000269980.2:p.Pro405= | |
| ENST00000457836.6:c.1224C>A | ENSP00000416000.2:p.Pro408= | |
| ENST00000540732.3:c.1317C>A | ENSP00000443246.1:p.Pro439= | |
| ENST00000544905.1:c.62-17C>A | ||
| ENST00000595085.5:c.922+1788C>A | ENSP00000471150.2:n.922+1788C>A | |
| NM_000709.3:c.1215C>A | NP_000700.1:p.Pro405= | |
| NM_001164783.1:c.1212C>A | NP_001158255.1:p.Pro404= | |
| NM_000709.4:c.1215C>A MANE Select | NP_000700.1:p.Pro405= | |
| NM_001164783.2:c.1212C>A | NP_001158255.1:p.Pro404= |