Linked Data
ClinVar Variation Id:
1636116
ClinVar RCV Id:
RCV002126016
dbSNP Id:
rs150933435
ExAC:
10:48389123 G / A
gnomAD v2:
10-48389123-G-A
gnomAD v3:
10-47350239-C-T
gnomAD v4:
10-47350239-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350239C>T , CM000672.2:g.47350239C>T | GRCh38 |
| NC_000010.10:g.48389123G>A , CM000672.1:g.48389123G>A | GRCh37 |
| NC_000010.9:g.48009129G>A | NCBI36 |
| NG_029718.1:g.6869C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1755C>T MANE Select | ENSP00000463151.1:p.Pro585= | |
| ENST00000584701.1:c.1755C>T | ENSP00000463151.1:p.Pro585= | |
| NM_002900.2:c.1755C>T | NP_002891.1:p.Pro585= | |
| NM_002900.3:c.1755C>T MANE Select | NP_002891.1:p.Pro585= |