Linked Data
ClinVar Variation Id:
2886683
ClinVar RCV Id:
RCV003720052
dbSNP Id:
rs1243218432
gnomAD v2:
10-101604081-A-G
gnomAD v3:
10-99844324-A-G
gnomAD v4:
10-99844324-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99844324A>G , CM000672.2:g.99844324A>G | GRCh38 |
| NC_000010.10:g.101604081A>G , CM000672.1:g.101604081A>G | GRCh37 |
| NC_000010.9:g.101594071A>G | NCBI36 |
| NG_011798.1:g.66619A>G | |
| NG_011798.2:g.66727A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3846A>G MANE Select | ENSP00000497274.1:p.Ala1282= | |
| ENST00000649459.1:n.194A>G | ||
| ENST00000370449.8:c.3846A>G | ENSP00000359478.4:p.Ala1282= | |
| NM_000392.4:c.3846A>G | NP_000383.1:p.Ala1282= | |
| XM_006717630.2:c.3150A>G | XP_006717693.1:p.Ala1050= | |
| XR_945604.1:n.4035A>G | ||
| XR_945605.1:n.3910A>G | ||
| NM_000392.5:c.3846A>G MANE Select | NP_000383.2:p.Ala1282= | |
| XM_006717630.3:c.3150A>G | XP_006717693.1:p.Ala1050= | |
| XR_945604.3:n.4089A>G | ||
| XR_945605.3:n.3962A>G |