Linked Data
ClinVar Variation Id:
2288891
ClinVar RCV Id:
RCV004143638
dbSNP Id:
rs2081973121
gnomAD v3:
21-31120789-C-T
gnomAD v4:
21-31120789-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31120789C>T , CM000683.2:g.31120789C>T | GRCh38 |
| NC_000021.8:g.32493107C>T , CM000683.1:g.32493107C>T | GRCh37 |
| NC_000021.7:g.31414978C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698169.1:c.*84G>A | ENSP00000513591.1:n.*84G>A | |
| ENST00000455508.2:c.4175G>A | ENSP00000388217.2:p.Arg1392Gln | |
| ENST00000541036.6:c.4355G>A MANE Select | ENSP00000441570.2:p.Arg1452Gln | |
| ENST00000636887.1:c.1454G>A | ENSP00000490786.1:p.Arg485Gln | |
| ENST00000286827.7:c.4355G>A | ENSP00000286827.3:p.Arg1452Gln | |
| ENST00000423206.5:c.271-2119G>A | ||
| ENST00000541036.5:c.4175G>A | ENSP00000441570.1:p.Arg1392Gln | |
| NM_003253.2:c.4355G>A | NP_003244.2:p.Arg1452Gln | |
| XM_005261037.1:c.4355G>A | XP_005261094.1:p.Arg1452Gln | |
| XM_005261038.1:c.4355G>A | XP_005261095.1:p.Arg1452Gln | |
| XM_005261040.1:c.*56G>A | XP_005261097.1:n.*56G>A | |
| XM_011529711.1:c.4355G>A | XP_011528013.1:p.Arg1452Gln | |
| XM_011529712.1:c.4355G>A | XP_011528014.1:p.Arg1452Gln | |
| XM_011529713.1:c.4355G>A | XP_011528015.1:p.Arg1452Gln | |
| NM_001353684.1:c.1454G>A | NP_001340613.1:p.Arg485Gln | |
| NM_001353685.1:c.1379G>A | NP_001340614.1:p.Arg460Gln | |
| NM_001353686.1:c.4280G>A | NP_001340615.1:p.Arg1427Gln | |
| NM_001353687.1:c.4280G>A | NP_001340616.1:p.Arg1427Gln | |
| NM_001353688.1:c.4355G>A | NP_001340617.1:p.Arg1452Gln | |
| NM_001353689.1:c.4355G>A | NP_001340618.1:p.Arg1452Gln | |
| NM_001353690.1:c.4355G>A | NP_001340619.1:p.Arg1452Gln | |
| NM_001353691.1:c.4355G>A | NP_001340620.1:p.Arg1452Gln | |
| NM_001353692.1:c.4355G>A | NP_001340621.1:p.Arg1452Gln | |
| NM_001353693.1:c.4355G>A | NP_001340622.1:p.Arg1452Gln | |
| NM_001353694.1:c.4355G>A | NP_001340623.1:p.Arg1452Gln | |
| NM_003253.3:c.4355G>A | NP_003244.2:p.Arg1452Gln | |
| XM_005261038.3:c.4355G>A | XP_005261095.1:p.Arg1452Gln | |
| XM_005261040.2:c.*56G>A | XP_005261097.1:n.*56G>A | |
| XM_017028448.1:c.4355G>A | XP_016883937.1:p.Arg1452Gln | |
| XM_017028450.1:c.4355G>A | XP_016883939.1:p.Arg1452Gln | |
| XM_017028451.2:c.4355G>A | XP_016883940.1:p.Arg1452Gln | |
| XM_024452127.1:c.4355G>A | XP_024307895.1:p.Arg1452Gln | |
| NM_001353684.2:c.1454G>A | NP_001340613.1:p.Arg485Gln | |
| NM_001353685.2:c.1379G>A | NP_001340614.1:p.Arg460Gln | |
| NM_001353686.2:c.4280G>A | NP_001340615.1:p.Arg1427Gln | |
| NM_001353687.2:c.4280G>A | NP_001340616.1:p.Arg1427Gln | |
| NM_001353694.2:c.4355G>A MANE Select | NP_001340623.1:p.Arg1452Gln |