Linked Data
ClinVar Variation Id:
429247
ClinVar RCV Id:
RCV000492993
dbSNP Id:
rs1010168019
gnomAD v4:
1-40831163-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40831163C>A , CM000663.2:g.40831163C>A | GRCh38 |
| NC_000001.10:g.41296835C>A , CM000663.1:g.41296835C>A | GRCh37 |
| NC_000001.9:g.41069422C>A | NCBI36 |
| NG_008139.1:g.52152C>A | |
| NG_008139.2:g.52152C>A | |
| NG_008139.3:g.52377C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.1372C>A MANE Select | ENSP00000262916.6:p.Pro458Thr | |
| ENST00000347132.9:c.1372C>A | ENSP00000262916.6:p.Pro458Thr | |
| ENST00000443478.3:c.953C>A | ||
| ENST00000506017.1:n.691C>A | ||
| ENST00000509682.6:c.1210C>A | ENSP00000423756.2:p.Pro404Thr | |
| NM_004700.3:c.1372C>A | NP_004691.2:p.Pro458Thr | |
| NM_172163.2:c.1210C>A | NP_751895.1:p.Pro404Thr | |
| XR_946798.1:n.1378C>A | ||
| XR_946799.1:n.1378C>A | ||
| XR_946800.1:n.1127C>A | ||
| XM_017002792.1:c.355C>A | XP_016858281.1:p.Pro119Thr | |
| NM_004700.4:c.1372C>A MANE Select | NP_004691.2:p.Pro458Thr | |
| NM_172163.3:c.1210C>A | NP_751895.1:p.Pro404Thr |