Linked Data
ClinVar Variation Id:
856836
ClinVar RCV Id:
RCV001062383
dbSNP Id:
rs916623598
gnomAD v3:
21-34792224-C-G
gnomAD v4:
21-34792224-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792224C>G , CM000683.2:g.34792224C>G | GRCh38 |
| NC_000021.8:g.36164521C>G , CM000683.1:g.36164521C>G | GRCh37 |
| NC_000021.7:g.35086391C>G | NCBI36 |
| NG_011402.2:g.1197488G>C , LRG_482:g.1197488G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1354G>C MANE Select | ENSP00000501943.1:p.Val452Leu | |
| ENST00000300305.7:c.1354G>C | ENSP00000300305.3:p.Val452Leu | |
| ENST00000344691.8:c.1273G>C | ENSP00000340690.4:p.Val425Leu | |
| ENST00000399240.5:c.1081G>C | ENSP00000382184.1:p.Val361Leu | |
| ENST00000437180.5:c.1354G>C | ENSP00000409227.1:p.Val452Leu | |
| ENST00000482318.5:c.*944G>C | ENSP00000477067.1:n.*944G>C | |
| NM_001001890.2:c.1273G>C | NP_001001890.1:p.Val425Leu | |
| NM_001754.4:c.1354G>C , LRG_482t1:c.1354G>C | NP_001745.2:p.Val452Leu | |
| XM_005261068.3:c.1318G>C | XP_005261125.1:p.Val440Leu | |
| XM_005261069.3:c.1162G>C | XP_005261126.1:p.Val388Leu | |
| XM_011529766.1:c.1354G>C | XP_011528068.1:p.Val452Leu | |
| XM_011529767.1:c.1315G>C | XP_011528069.1:p.Val439Leu | |
| XM_011529768.1:c.1123G>C | XP_011528070.1:p.Val375Leu | |
| XM_005261069.4:c.1162G>C | XP_005261126.1:p.Val388Leu | |
| XM_011529766.2:c.1354G>C | XP_011528068.1:p.Val452Leu | |
| XM_011529767.2:c.1315G>C | XP_011528069.1:p.Val439Leu | |
| XM_011529768.2:c.1123G>C | XP_011528070.1:p.Val375Leu | |
| XM_017028487.1:c.1201G>C | XP_016883976.1:p.Val401Leu | |
| NM_001001890.3:c.1273G>C | NP_001001890.1:p.Val425Leu | |
| NM_001754.5:c.1354G>C MANE Select | NP_001745.2:p.Val452Leu |