Linked Data
ClinVar Variation Id:
1496111
ClinVar RCV Id:
RCV001991719
dbSNP Id:
rs773084508
ExAC:
21:34775857 C / G
gnomAD v2:
21-34775857-C-G
gnomAD v3:
21-33403551-C-G
gnomAD v4:
21-33403551-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33403551C>G , CM000683.2:g.33403551C>G | GRCh38 |
| NC_000021.8:g.34775857C>G , CM000683.1:g.34775857C>G | GRCh37 |
| NC_000021.7:g.33697727C>G | NCBI36 |
| NG_007570.2:g.23559C>G , LRG_67:g.23559C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290219.11:c.8C>G MANE Select | ENSP00000290219.5:p.Pro3Arg | |
| ENST00000290219.10:c.8C>G | ENSP00000290219.5:p.Pro3Arg | |
| ENST00000381995.5:c.8C>G | ENSP00000371425.1:p.Pro3Arg | |
| ENST00000405436.5:c.-282C>G | ENSP00000385044.1:n.-282C>G | |
| ENST00000439213.5:c.8C>G | ENSP00000407541.1:p.Pro3Arg | |
| ENST00000545369.2:c.8C>G | ENSP00000442735.2:p.Pro3Arg | |
| NM_005534.3:c.8C>G , LRG_67t1:c.8C>G | NP_005525.2:p.Pro3Arg | |
| XM_005260969.2:c.8C>G | XP_005261026.1:p.Pro3Arg | |
| NM_001329128.1:c.8C>G | NP_001316057.1:p.Pro3Arg | |
| NM_001329128.2:c.8C>G | NP_001316057.1:p.Pro3Arg | |
| NM_005534.4:c.8C>G MANE Select | NP_005525.2:p.Pro3Arg |