Linked Data
ClinVar Variation Id:
215914
ClinVar RCV Id:
RCV000199267
RCV000288556
RCV000291942
RCV000253581
RCV000395274
RCV000345815
RCV000569522
RCV000662488
RCV001289998
RCV003326372
dbSNP Id:
rs145798106
ExAC:
10:43620379 G / A
gnomAD v2:
10-43620379-G-A
gnomAD v3:
10-43124931-G-A
gnomAD v4:
10-43124931-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43124931G>A , CM000672.2:g.43124931G>A | GRCh38 |
| NC_000010.10:g.43620379G>A , CM000672.1:g.43620379G>A | GRCh37 |
| NC_000010.9:g.42940385G>A | NCBI36 |
| NG_007489.1:g.52863G>A , LRG_518:g.52863G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2592G>A | ENSP00000480088.2:p.Pro864= | |
| ENST00000683007.1:n.2562G>A | ||
| ENST00000340058.6:c.2988G>A | ENSP00000344798.4:p.Pro996= | |
| ENST00000355710.8:c.2988G>A MANE Select | ENSP00000347942.3:p.Pro996= | |
| ENST00000671844.1:c.*1582G>A | ENSP00000500541.1:n.*1582G>A | |
| ENST00000672389.1:c.*1582G>A | ENSP00000500252.1:n.*1582G>A | |
| ENST00000340058.5:c.2988G>A | ENSP00000344798.4:p.Pro996= | |
| ENST00000355710.7:c.2988G>A | ENSP00000347942.3:p.Pro996= | |
| ENST00000615310.4:c.*337G>A | ENSP00000480088.1:n.*337G>A | |
| NM_020630.4:c.2988G>A , LRG_518t2:c.2988G>A | NP_065681.1:p.Pro996= | |
| NM_020975.4:c.2988G>A , LRG_518t1:c.2988G>A | NP_066124.1:p.Pro996= | |
| XM_011540027.1:c.2988G>A | XP_011538329.1:p.Pro996= | |
| NM_001355216.1:c.2226G>A | NP_001342145.1:p.Pro742= | |
| NM_020630.5:c.2988G>A | NP_065681.1:p.Pro996= | |
| NM_020975.5:c.2988G>A | NP_066124.1:p.Pro996= | |
| NM_020975.6:c.2988G>A MANE Select | NP_066124.1:p.Pro996= | |
| NM_020630.6:c.2988G>A | NP_065681.1:p.Pro996= |