Linked Data
ClinVar Variation Id:
454041
ClinVar RCV Id:
RCV000552686
dbSNP Id:
rs749702191
ExAC:
11:2905284 C / A
gnomAD v2:
11-2905284-C-A
gnomAD v4:
11-2884054-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2884054C>A , CM000673.2:g.2884054C>A | GRCh38 |
| NC_000011.9:g.2905284C>A , CM000673.1:g.2905284C>A | GRCh37 |
| NC_000011.8:g.2861860C>A | NCBI36 |
| NG_008022.1:g.6712G>T , LRG_533:g.6712G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681969.1:n.223G>T | ||
| ENST00000380725.2:c.336G>T | ENSP00000370101.1:p.Pro112= | |
| ENST00000414822.8:c.901G>T | ENSP00000413720.3:p.Ala301Ser | |
| ENST00000430149.3:c.901G>T | ENSP00000411552.2:p.Ala301Ser | |
| ENST00000440480.8:c.868G>T MANE Select | ENSP00000411257.2:p.Ala290Ser | |
| ENST00000647251.1:c.336G>T | ENSP00000496631.1:p.Pro112= | |
| ENST00000380725.1:c.336G>T | ENSP00000370101.1:p.Pro112= | |
| ENST00000414822.7:c.901G>T | ENSP00000413720.3:p.Ala301Ser | |
| ENST00000430149.2:c.901G>T | ENSP00000411552.2:p.Ala301Ser | |
| ENST00000440480.6:c.868G>T | ENSP00000411257.2:p.Ala290Ser | |
| ENST00000471157.2:n.648G>T | ||
| NM_000076.2:c.901G>T , LRG_533t1:c.901G>T | NP_000067.1:p.Ala301Ser | |
| NM_001122630.1:c.868G>T | NP_001116102.1:p.Ala290Ser | |
| NM_001122631.1:c.868G>T | NP_001116103.1:p.Ala290Ser | |
| XM_005252732.3:c.336G>T | XP_005252789.1:p.Pro112= | |
| NM_001362474.1:c.901G>T | NP_001349403.1:p.Ala301Ser | |
| NM_001362475.1:c.336G>T | NP_001349404.1:p.Pro112= | |
| NM_001122630.2:c.868G>T MANE Select | NP_001116102.1:p.Ala290Ser | |
| NM_001122631.2:c.868G>T | NP_001116103.1:p.Ala290Ser | |
| NM_001362474.2:c.901G>T | NP_001349403.1:p.Ala301Ser | |
| NM_001362475.2:c.336G>T | NP_001349404.1:p.Pro112= |