Linked Data
ClinVar Variation Id:
2379682
ClinVar RCV Id:
RCV002688613
dbSNP Id:
rs759374777
ExAC:
10:101595908 A / G
gnomAD v2:
10-101595908-A-G
gnomAD v3:
10-99836151-A-G
gnomAD v4:
10-99836151-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836151A>G , CM000672.2:g.99836151A>G | GRCh38 |
| NC_000010.10:g.101595908A>G , CM000672.1:g.101595908A>G | GRCh37 |
| NC_000010.9:g.101585898A>G | NCBI36 |
| NG_011798.1:g.58446A>G | |
| NG_011798.2:g.58554A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3475A>G MANE Select | ENSP00000497274.1:p.Ile1159Val | |
| ENST00000370449.8:c.3475A>G | ENSP00000359478.4:p.Ile1159Val | |
| NM_000392.4:c.3475A>G | NP_000383.1:p.Ile1159Val | |
| XM_006717630.2:c.2779A>G | XP_006717693.1:p.Ile927Val | |
| XR_945604.1:n.3664A>G | ||
| XR_945605.1:n.3666A>G | ||
| NM_000392.5:c.3475A>G MANE Select | NP_000383.2:p.Ile1159Val | |
| XM_006717630.3:c.2779A>G | XP_006717693.1:p.Ile927Val | |
| XR_945604.3:n.3718A>G | ||
| XR_945605.3:n.3718A>G |