Linked Data
ClinVar Variation Id:
161358
ClinVar RCV Id:
RCV000148781
RCV000411751
RCV000409290
RCV000462012
RCV000455880
RCV000562835
RCV001102744
RCV001102743
RCV000766923
RCV001102745
RCV001102746
RCV004532668
dbSNP Id:
rs141185224
ExAC:
10:43610129 G / A
gnomAD v2:
10-43610129-G-A
gnomAD v3:
10-43114681-G-A
gnomAD v4:
10-43114681-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114681G>A , CM000672.2:g.43114681G>A | GRCh38 |
| NC_000010.10:g.43610129G>A , CM000672.1:g.43610129G>A | GRCh37 |
| NC_000010.9:g.42930135G>A | NCBI36 |
| NG_007489.1:g.42613G>A , LRG_518:g.42613G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1685G>A | ENSP00000480088.2:p.Arg562Gln | |
| ENST00000683007.1:n.1655G>A | ||
| ENST00000683872.1:n.1646G>A | ||
| ENST00000340058.6:c.2081G>A | ENSP00000344798.4:p.Arg694Gln | |
| ENST00000355710.8:c.2081G>A MANE Select | ENSP00000347942.3:p.Arg694Gln | |
| ENST00000671844.1:c.*675G>A | ENSP00000500541.1:n.*675G>A | |
| ENST00000672389.1:c.*675G>A | ENSP00000500252.1:n.*675G>A | |
| ENST00000340058.5:c.2081G>A | ENSP00000344798.4:p.Arg694Gln | |
| ENST00000355710.7:c.2081G>A | ENSP00000347942.3:p.Arg694Gln | |
| ENST00000615310.4:c.1289+3449G>A | ENSP00000480088.1:n.1289+3449G>A | |
| NM_020630.4:c.2081G>A , LRG_518t2:c.2081G>A | NP_065681.1:p.Arg694Gln | |
| NM_020975.4:c.2081G>A , LRG_518t1:c.2081G>A | NP_066124.1:p.Arg694Gln | |
| XM_011540027.1:c.2081G>A | XP_011538329.1:p.Arg694Gln | |
| NM_001355216.1:c.1319G>A | NP_001342145.1:p.Arg440Gln | |
| NM_020630.5:c.2081G>A | NP_065681.1:p.Arg694Gln | |
| NM_020975.5:c.2081G>A | NP_066124.1:p.Arg694Gln | |
| NM_020975.6:c.2081G>A MANE Select | NP_066124.1:p.Arg694Gln | |
| NM_020630.6:c.2081G>A | NP_065681.1:p.Arg694Gln |