Linked Data
ClinVar Variation Id:
2150639
ClinVar RCV Id:
RCV003067672
dbSNP Id:
rs775297065
ExAC:
21:45708269 A / G
gnomAD v2:
21-45708269-A-G
gnomAD v4:
21-44288386-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288386A>G , CM000683.2:g.44288386A>G | GRCh38 |
| NC_000021.8:g.45708269A>G , CM000683.1:g.45708269A>G | GRCh37 |
| NC_000021.7:g.44532697A>G | NCBI36 |
| NG_009556.1:g.7507A>G , LRG_18:g.7507A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.580A>G MANE Select | ENSP00000291582.5:p.Met194Val | |
| ENST00000291582.5:c.580A>G | ENSP00000291582.5:p.Met194Val | |
| ENST00000527919.5:n.1124A>G | ||
| ENST00000530812.5:n.1132A>G | ||
| NM_000383.3:c.580A>G | NP_000374.1:p.Met194Val | |
| XM_011529551.1:c.580A>G | XP_011527853.1:p.Met194Val | |
| NM_000383.4:c.580A>G MANE Select | NP_000374.1:p.Met194Val |