Linked Data
ClinVar Variation Id:
183744
ClinVar RCV Id:
RCV000162457
RCV000168316
RCV000339922
RCV000304884
RCV000343184
RCV000401667
RCV000409584
RCV000411142
RCV002460938
dbSNP Id:
rs756465544
ExAC:
10:43623625 A / G
gnomAD v2:
10-43623625-A-G
gnomAD v3:
10-43128177-A-G
gnomAD v4:
10-43128177-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43128177A>G , CM000672.2:g.43128177A>G | GRCh38 |
| NC_000010.10:g.43623625A>G , CM000672.1:g.43623625A>G | GRCh37 |
| NC_000010.9:g.42943631A>G | NCBI36 |
| NG_007489.1:g.56109A>G , LRG_518:g.56109A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.*1423A>G | ENSP00000480088.2:n.*1423A>G | |
| ENST00000683007.1:n.4216A>G | ||
| ENST00000355710.8:c.3253A>G MANE Select | ENSP00000347942.3:p.Thr1085Ala | |
| ENST00000355710.7:c.3253A>G | ENSP00000347942.3:p.Thr1085Ala | |
| ENST00000615310.4:c.*602A>G | ENSP00000480088.1:n.*602A>G | |
| NM_020975.4:c.3253A>G , LRG_518t1:c.3253A>G | NP_066124.1:p.Thr1085Ala | |
| XM_011540027.1:c.3253A>G | XP_011538329.1:p.Thr1085Ala | |
| NM_020975.5:c.3253A>G | NP_066124.1:p.Thr1085Ala | |
| NM_020975.6:c.3253A>G MANE Select | NP_066124.1:p.Thr1085Ala |