Linked Data
ClinVar Variation Id:
299932
dbSNP Id:
rs149252070
gnomAD v2:
10-43625065-G-A
gnomAD v3:
10-43129617-G-A
gnomAD v4:
10-43129617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43129617G>A , CM000672.2:g.43129617G>A | GRCh38 |
| NC_000010.10:g.43625065G>A , CM000672.1:g.43625065G>A | GRCh37 |
| NC_000010.9:g.42945071G>A | NCBI36 |
| NG_007489.1:g.57549G>A , LRG_518:g.57549G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.*2863G>A | ENSP00000480088.2:n.*2863G>A | |
| ENST00000683007.1:n.5656G>A | ||
| ENST00000355710.8:c.*1348G>A MANE Select | ENSP00000347942.3:n.*1348G>A | |
| ENST00000355710.7:c.*1348G>A | ENSP00000347942.3:n.*1348G>A | |
| ENST00000615310.4:c.*2042G>A | ENSP00000480088.1:n.*2042G>A | |
| NM_020975.4:c.*1348G>A , LRG_518t1:c.*1348G>A | NP_066124.1:n.*1348G>A | |
| XM_011540027.1:c.*116G>A | XP_011538329.1:n.*116G>A | |
| NM_020975.5:c.*1348G>A | NP_066124.1:n.*1348G>A | |
| NM_020975.6:c.*1348G>A MANE Select | NP_066124.1:n.*1348G>A |