Linked Data
ClinVar Variation Id:
299926
dbSNP Id:
rs572936041
gnomAD v2:
10-43624847-A-G
gnomAD v3:
10-43129399-A-G
gnomAD v4:
10-43129399-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43129399A>G , CM000672.2:g.43129399A>G | GRCh38 |
| NC_000010.10:g.43624847A>G , CM000672.1:g.43624847A>G | GRCh37 |
| NC_000010.9:g.42944853A>G | NCBI36 |
| NG_007489.1:g.57331A>G , LRG_518:g.57331A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.*2645A>G | ENSP00000480088.2:n.*2645A>G | |
| ENST00000683007.1:n.5438A>G | ||
| ENST00000355710.8:c.*1130A>G MANE Select | ENSP00000347942.3:n.*1130A>G | |
| ENST00000355710.7:c.*1130A>G | ENSP00000347942.3:n.*1130A>G | |
| ENST00000615310.4:c.*1824A>G | ENSP00000480088.1:n.*1824A>G | |
| NM_020975.4:c.*1130A>G , LRG_518t1:c.*1130A>G | NP_066124.1:n.*1130A>G | |
| XM_011540027.1:c.*17-119A>G | XP_011538329.1:n.*17-119A>G | |
| NM_020975.5:c.*1130A>G | NP_066124.1:n.*1130A>G | |
| NM_020975.6:c.*1130A>G MANE Select | NP_066124.1:n.*1130A>G |