Linked Data
ClinVar Variation Id:
476442
dbSNP Id:
rs141572895
ExAC:
21:47409543 C / G
gnomAD v2:
21-47409543-C-G
gnomAD v3:
21-45989629-C-G
gnomAD v4:
21-45989629-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45989629C>G , CM000683.2:g.45989629C>G | GRCh38 |
| NC_000021.8:g.47409543C>G , CM000683.1:g.47409543C>G | GRCh37 |
| NC_000021.7:g.46233971C>G | NCBI36 |
| NG_008674.1:g.12881C>G , LRG_475:g.12881C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.880C>G MANE Select | ENSP00000355180.3:p.Pro294Ala | |
| ENST00000361866.7:c.880C>G | ENSP00000355180.3:p.Pro294Ala | |
| ENST00000612273.1:c.880C>G | ENSP00000483630.1:p.Pro294Ala | |
| NM_001848.2:c.880C>G , LRG_475t1:c.880C>G | NP_001839.2:p.Pro294Ala | |
| NM_001848.3:c.880C>G MANE Select | NP_001839.2:p.Pro294Ala |