Linked Data
ClinVar Variation Id:
1645615
ClinVar RCV Id:
RCV002148605
dbSNP Id:
rs1167669833
gnomAD v2:
11-17408940-G-C
gnomAD v4:
11-17387393-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387393G>C , CM000673.2:g.17387393G>C | GRCh38 |
| NC_000011.9:g.17408940G>C , CM000673.1:g.17408940G>C | GRCh37 |
| NC_000011.8:g.17365516G>C | NCBI36 |
| NG_012446.1:g.6267C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.438C>G | ENSP00000508090.1:p.Leu146= | |
| ENST00000682764.1:c.438C>G | ENSP00000506780.1:p.Leu146= | |
| ENST00000339994.5:c.699C>G MANE Select | ENSP00000345708.4:p.Leu233= | |
| ENST00000339994.4:c.699C>G | ENSP00000345708.4:p.Leu233= | |
| ENST00000526912.1:c.438C>G | ENSP00000432729.1:p.Leu146= | |
| ENST00000528731.1:c.438C>G | ENSP00000434755.1:p.Leu146= | |
| NM_000525.3:c.699C>G | NP_000516.3:p.Leu233= | |
| NM_001166290.1:c.438C>G | NP_001159762.1:p.Leu146= | |
| XM_006718226.2:c.438C>G | XP_006718289.1:p.Leu146= | |
| XR_930867.1:n.857C>G | ||
| XM_006718226.3:c.438C>G | XP_006718289.1:p.Leu146= | |
| XM_017017680.1:c.438C>G | XP_016873169.1:p.Leu146= | |
| NM_001166290.2:c.438C>G | NP_001159762.1:p.Leu146= | |
| NM_001377296.1:c.438C>G | NP_001364225.1:p.Leu146= | |
| NM_001377297.1:c.438C>G | NP_001364226.1:p.Leu146= | |
| NM_000525.4:c.699C>G MANE Select | NP_000516.3:p.Leu233= |