Linked Data
ClinVar Variation Id:
340118
ClinVar RCV Id:
RCV000383928
dbSNP Id:
rs886057112
gnomAD v4:
21-43773975-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43773975T>C , CM000683.2:g.43773975T>C | GRCh38 |
| NC_000021.8:g.45193856T>C , CM000683.1:g.45193856T>C | GRCh37 |
| NC_000021.7:g.44018284T>C | NCBI36 |
| NG_011545.1:g.7404A>G , LRG_485:g.7404A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.*227A>G MANE Select | ENSP00000291568.6:n.*227A>G | |
| ENST00000480147.3:n.2294A>G | ||
| ENST00000639959.1:c.391A>G | ||
| ENST00000640406.1:c.*599A>G | ENSP00000492672.1:n.*599A>G | |
| ENST00000675996.1:n.949A>G | ||
| ENST00000291568.5:c.*227A>G | ENSP00000291568.5:n.*227A>G | |
| NM_000100.3:c.*227A>G , LRG_485t1:c.*227A>G | NP_000091.1:n.*227A>G | |
| NM_000100.4:c.*227A>G MANE Select | NP_000091.1:n.*227A>G |