Linked Data
ClinVar Variation Id:
339795
ClinVar RCV Id:
RCV000359768
dbSNP Id:
rs886057029
gnomAD v3:
21-34787988-G-C
gnomAD v4:
21-34787988-G-C
ERepo:
CA10644606/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34787988G>C , CM000683.2:g.34787988G>C | GRCh38 |
| NC_000021.8:g.36160285G>C , CM000683.1:g.36160285G>C | GRCh37 |
| NC_000021.7:g.35082155G>C | NCBI36 |
| NG_011402.2:g.1201724C>G , LRG_482:g.1201724C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.*4147C>G MANE Select | ENSP00000501943.1:n.*4147C>G | |
| ENST00000300305.7:c.*4147C>G | ENSP00000300305.3:n.*4147C>G | |
| ENST00000344691.8:c.*4147C>G | ENSP00000340690.4:n.*4147C>G | |
| ENST00000437180.5:c.*4147C>G | ENSP00000409227.1:n.*4147C>G | |
| NM_001001890.2:c.*4147C>G | NP_001001890.1:n.*4147C>G | |
| NM_001754.4:c.*4147C>G , LRG_482t1:c.*4147C>G | NP_001745.2:n.*4147C>G | |
| XM_005261068.3:c.*4147C>G | XP_005261125.1:n.*4147C>G | |
| XM_005261069.3:c.*4147C>G | XP_005261126.1:n.*4147C>G | |
| XM_011529766.1:c.*4147C>G | XP_011528068.1:n.*4147C>G | |
| XM_011529767.1:c.*4147C>G | XP_011528069.1:n.*4147C>G | |
| XM_011529768.1:c.*4147C>G | XP_011528070.1:n.*4147C>G | |
| XM_005261069.4:c.*4147C>G | XP_005261126.1:n.*4147C>G | |
| XM_011529766.2:c.*4147C>G | XP_011528068.1:n.*4147C>G | |
| XM_011529767.2:c.*4147C>G | XP_011528069.1:n.*4147C>G | |
| XM_011529768.2:c.*4147C>G | XP_011528070.1:n.*4147C>G | |
| XM_017028487.1:c.*4147C>G | XP_016883976.1:n.*4147C>G | |
| NM_001001890.3:c.*4147C>G | NP_001001890.1:n.*4147C>G | |
| NM_001754.5:c.*4147C>G MANE Select | NP_001745.2:n.*4147C>G |