Linked Data
ClinVar Variation Id:
2996767
ClinVar RCV Id:
RCV003858902
MyVariant Identifiers:
chr7:g.21920397T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21880779T>A , CM000669.2:g.21880779T>A | GRCh38 |
| NC_000007.13:g.21920397T>A , CM000669.1:g.21920397T>A | GRCh37 |
| NC_000007.12:g.21886922T>A | NCBI36 |
| NG_012886.2:g.342565T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.12273T>A MANE Select | ENSP00000475939.1:p.Val4091= | |
| ENST00000328843.10:c.12294T>A | ENSP00000330671.7:p.Val4098= | |
| ENST00000409508.7:c.12273T>A | ENSP00000475939.1:p.Val4091= | |
| ENST00000620169.4:c.12294T>A | ENSP00000481693.1:p.Val4098= | |
| NM_001277115.1:c.12273T>A | NP_001264044.1:p.Val4091= | |
| NM_001277115.2:c.12273T>A MANE Select | NP_001264044.1:p.Val4091= |