Linked Data
ClinVar Variation Id:
2016811
ClinVar RCV Id:
RCV002851764
MyVariant Identifiers:
chr9:g.130698019C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127935740C>T , CM000671.2:g.127935740C>T | GRCh38 |
| NC_000009.11:g.130698019C>T , CM000671.1:g.130698019C>T | GRCh37 |
| NC_000009.10:g.129737840C>T | NCBI36 |
| NG_032927.1:g.7745G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314392.13:c.237G>A MANE Select | ENSP00000322181.8:p.Val79= | |
| ENST00000314392.12:c.237G>A | ENSP00000322181.8:p.Val79= | |
| ENST00000470181.1:n.529G>A | ||
| ENST00000473360.1:n.387G>A | ||
| ENST00000495270.1:n.1021G>A | ||
| NM_003863.3:c.237G>A | NP_003854.1:p.Val79= | |
| NM_003863.4:c.237G>A MANE Select | NP_003854.1:p.Val79= | |
| NM_001378437.1:c.147G>A | NP_001365366.1:p.Val49= | |
| NR_165631.1:n.394G>A | ||
| NR_165632.1:n.78G>A |