Linked Data
ClinVar Variation Id:
6724
dbSNP Id:
rs324420
ExAC:
1:46870761 C / A
gnomAD v2:
1-46870761-C-A
gnomAD v3:
1-46405089-C-A
gnomAD v4:
1-46405089-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46405089C>A , CM000663.2:g.46405089C>A | GRCh38 |
| NC_000001.10:g.46870761C>A , CM000663.1:g.46870761C>A | GRCh37 |
| NC_000001.9:g.46643348C>A | NCBI36 |
| NG_012195.1:g.15823C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243167.9:c.385C>A MANE Select | ENSP00000243167.8:p.Pro129Thr | |
| ENST00000243167.8:c.385C>A | ENSP00000243167.8:p.Pro129Thr | |
| ENST00000468718.5:n.405C>A | ||
| ENST00000493735.5:n.363C>A | ||
| NM_001441.2:c.385C>A | NP_001432.2:p.Pro129Thr | |
| NM_001441.3:c.385C>A MANE Select | NP_001432.2:p.Pro129Thr |