Linked Data
ClinVar Variation Id:
241342
ClinVar RCV Id:
RCV000229577
RCV000662388
RCV001292757
RCV002508206
RCV002411060
RCV003463677
RCV002487084
dbSNP Id:
rs377767411
ExAC:
10:43609969 G / A
gnomAD v2:
10-43609969-G-A
gnomAD v3:
10-43114521-G-A
gnomAD v4:
10-43114521-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114521G>A , CM000672.2:g.43114521G>A | GRCh38 |
| NC_000010.10:g.43609969G>A , CM000672.1:g.43609969G>A | GRCh37 |
| NC_000010.9:g.42929975G>A | NCBI36 |
| NG_007489.1:g.42453G>A , LRG_518:g.42453G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1525G>A | ENSP00000480088.2:p.Ala509Thr | |
| ENST00000683007.1:n.1495G>A | ||
| ENST00000683872.1:n.1486G>A | ||
| ENST00000340058.6:c.1921G>A | ENSP00000344798.4:p.Ala641Thr | |
| ENST00000355710.8:c.1921G>A MANE Select | ENSP00000347942.3:p.Ala641Thr | |
| ENST00000671844.1:c.*515G>A | ENSP00000500541.1:n.*515G>A | |
| ENST00000672389.1:c.*515G>A | ENSP00000500252.1:n.*515G>A | |
| ENST00000340058.5:c.1921G>A | ENSP00000344798.4:p.Ala641Thr | |
| ENST00000355710.7:c.1921G>A | ENSP00000347942.3:p.Ala641Thr | |
| ENST00000498820.5:c.472G>A | ENSP00000419080.1:p.Ala158Thr | |
| ENST00000615310.4:c.1289+3289G>A | ENSP00000480088.1:n.1289+3289G>A | |
| NM_020630.4:c.1921G>A , LRG_518t2:c.1921G>A | NP_065681.1:p.Ala641Thr | |
| NM_020975.4:c.1921G>A , LRG_518t1:c.1921G>A | NP_066124.1:p.Ala641Thr | |
| XM_011540027.1:c.1921G>A | XP_011538329.1:p.Ala641Thr | |
| NM_001355216.1:c.1159G>A | NP_001342145.1:p.Ala387Thr | |
| NM_020630.5:c.1921G>A | NP_065681.1:p.Ala641Thr | |
| NM_020975.5:c.1921G>A | NP_066124.1:p.Ala641Thr | |
| NM_020975.6:c.1921G>A MANE Select | NP_066124.1:p.Ala641Thr | |
| NM_020630.6:c.1921G>A | NP_065681.1:p.Ala641Thr |