Linked Data
ClinVar Variation Id:
3147678
ClinVar RCV Id:
RCV004437511
dbSNP Id:
rs543195574
ExAC:
21:47410313 A / G
gnomAD v2:
21-47410313-A-G
gnomAD v3:
21-45990399-A-G
gnomAD v4:
21-45990399-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990399A>G , CM000683.2:g.45990399A>G | GRCh38 |
| NC_000021.8:g.47410313A>G , CM000683.1:g.47410313A>G | GRCh37 |
| NC_000021.7:g.46234741A>G | NCBI36 |
| NG_008674.1:g.13651A>G , LRG_475:g.13651A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.979A>G MANE Select | ENSP00000355180.3:p.Ile327Val | |
| ENST00000361866.7:c.979A>G | ENSP00000355180.3:p.Ile327Val | |
| ENST00000612273.1:c.979A>G | ENSP00000483630.1:p.Ile327Val | |
| NM_001848.2:c.979A>G , LRG_475t1:c.979A>G | NP_001839.2:p.Ile327Val | |
| NM_001848.3:c.979A>G MANE Select | NP_001839.2:p.Ile327Val |