Linked Data
ClinVar Variation Id:
299916
dbSNP Id:
rs185408658
gnomAD v2:
10-43624293-G-A
gnomAD v3:
10-43128845-G-A
gnomAD v4:
10-43128845-G-A
COSMIC:
COSN229691
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43128845G>A , CM000672.2:g.43128845G>A | GRCh38 |
| NC_000010.10:g.43624293G>A , CM000672.1:g.43624293G>A | GRCh37 |
| NC_000010.9:g.42944299G>A | NCBI36 |
| NG_007489.1:g.56777G>A , LRG_518:g.56777G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.*2091G>A | ENSP00000480088.2:n.*2091G>A | |
| ENST00000683007.1:n.4884G>A | ||
| ENST00000355710.8:c.*576G>A MANE Select | ENSP00000347942.3:n.*576G>A | |
| ENST00000355710.7:c.*576G>A | ENSP00000347942.3:n.*576G>A | |
| ENST00000615310.4:c.*1270G>A | ENSP00000480088.1:n.*1270G>A | |
| NM_020975.4:c.*576G>A , LRG_518t1:c.*576G>A | NP_066124.1:n.*576G>A | |
| XM_011540027.1:c.*16+560G>A | XP_011538329.1:n.*16+560G>A | |
| NM_020975.5:c.*576G>A | NP_066124.1:n.*576G>A | |
| NM_020975.6:c.*576G>A MANE Select | NP_066124.1:n.*576G>A |