Linked Data
ClinVar Variation Id:
454017
dbSNP Id:
rs1261515352
gnomAD v2:
11-2906136-A-G
gnomAD v3:
11-2884906-A-G
gnomAD v4:
11-2884906-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2884906A>G , CM000673.2:g.2884906A>G | GRCh38 |
| NC_000011.9:g.2906136A>G , CM000673.1:g.2906136A>G | GRCh37 |
| NC_000011.8:g.2862712A>G | NCBI36 |
| NG_008022.1:g.5860T>C , LRG_533:g.5860T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681969.1:n.142+728T>C | ||
| ENST00000380725.2:c.255+296T>C | ENSP00000370101.1:n.255+296T>C | |
| ENST00000414822.8:c.584T>C | ENSP00000413720.3:p.Val195Ala | |
| ENST00000430149.3:c.584T>C | ENSP00000411552.2:p.Val195Ala | |
| ENST00000440480.8:c.551T>C MANE Select | ENSP00000411257.2:p.Val184Ala | |
| ENST00000647251.1:c.255+296T>C | ENSP00000496631.1:n.255+296T>C | |
| ENST00000380725.1:c.255+296T>C | ENSP00000370101.1:n.255+296T>C | |
| ENST00000414822.7:c.584T>C | ENSP00000413720.3:p.Val195Ala | |
| ENST00000430149.2:c.584T>C | ENSP00000411552.2:p.Val195Ala | |
| ENST00000440480.6:c.551T>C | ENSP00000411257.2:p.Val184Ala | |
| NM_000076.2:c.584T>C , LRG_533t1:c.584T>C | NP_000067.1:p.Val195Ala | |
| NM_001122630.1:c.551T>C | NP_001116102.1:p.Val184Ala | |
| NM_001122631.1:c.551T>C | NP_001116103.1:p.Val184Ala | |
| XM_005252732.3:c.255+296T>C | XP_005252789.1:n.255+296T>C | |
| NM_001362474.1:c.584T>C | NP_001349403.1:p.Val195Ala | |
| NM_001362475.1:c.255+296T>C | NP_001349404.1:n.255+296T>C | |
| NM_001122630.2:c.551T>C MANE Select | NP_001116102.1:p.Val184Ala | |
| NM_001122631.2:c.551T>C | NP_001116103.1:p.Val184Ala | |
| NM_001362474.2:c.584T>C | NP_001349403.1:p.Val195Ala | |
| NM_001362475.2:c.255+296T>C | NP_001349404.1:n.255+296T>C |