Linked Data
ClinVar Variation Id:
282490
dbSNP Id:
rs886042409
gnomAD v2:
21-47406567-G-C
gnomAD v3:
21-45986653-G-C
gnomAD v4:
21-45986653-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45986653G>C , CM000683.2:g.45986653G>C | GRCh38 |
| NC_000021.8:g.47406567G>C , CM000683.1:g.47406567G>C | GRCh37 |
| NC_000021.7:g.46230995G>C | NCBI36 |
| NG_008674.1:g.9905G>C , LRG_475:g.9905G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.556G>C MANE Select | ENSP00000355180.3:p.Val186Leu | |
| ENST00000361866.7:c.556G>C | ENSP00000355180.3:p.Val186Leu | |
| ENST00000612273.1:c.556G>C | ENSP00000483630.1:p.Val186Leu | |
| NM_001848.2:c.556G>C , LRG_475t1:c.556G>C | NP_001839.2:p.Val186Leu | |
| NM_001848.3:c.556G>C MANE Select | NP_001839.2:p.Val186Leu |