Linked Data
ClinVar Variation Id:
1086980
ClinVar RCV Id:
RCV001404905
dbSNP Id:
rs1356476468
gnomAD v2:
1-78401628-T-C
gnomAD v4:
1-77935943-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77935943T>C , CM000663.2:g.77935943T>C | GRCh38 |
| NC_000001.10:g.78401628T>C , CM000663.1:g.78401628T>C | GRCh37 |
| NC_000001.9:g.78174216T>C | NCBI36 |
| NG_016625.1:g.52429T>C , LRG_442:g.52429T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1372T>C MANE Select | ENSP00000333938.7:p.Leu458= | |
| ENST00000330010.12:c.1180T>C | ENSP00000327363.8:p.Leu394= | |
| ENST00000334785.11:c.1372T>C | ENSP00000333938.7:p.Leu458= | |
| ENST00000342754.5:c.1071T>C | ||
| ENST00000464998.1:n.832T>C | ||
| ENST00000480732.2:n.946T>C | ||
| NM_001172309.1:c.1180T>C | NP_001165780.1:p.Leu394= | |
| NM_144573.3:c.1372T>C , LRG_442t1:c.1372T>C | NP_653174.3:p.Leu458= | |
| XM_005271322.2:c.1372T>C | XP_005271379.1:p.Leu458= | |
| XM_005271323.2:c.1330T>C | XP_005271380.1:p.Leu444= | |
| XM_005271324.3:c.1180T>C | XP_005271381.1:p.Leu394= | |
| XM_005271325.2:c.1251+2464T>C | XP_005271382.1:n.1251+2464T>C | |
| XM_005271326.2:c.1138T>C | XP_005271383.1:p.Leu380= | |
| XM_005271327.2:c.955T>C | XP_005271384.1:p.Leu319= | |
| XM_005271322.4:c.1372T>C | XP_005271379.1:p.Leu458= | |
| XM_005271323.4:c.1330T>C | XP_005271380.1:p.Leu444= | |
| XM_005271324.5:c.1180T>C | XP_005271381.1:p.Leu394= | |
| XM_005271325.4:c.1251+2464T>C | XP_005271382.1:n.1251+2464T>C | |
| XM_005271326.4:c.1138T>C | XP_005271383.1:p.Leu380= | |
| XM_005271327.4:c.955T>C | XP_005271384.1:p.Leu319= | |
| NM_001172309.2:c.1180T>C | NP_001165780.1:p.Leu394= | |
| NM_144573.4:c.1372T>C MANE Select | NP_653174.3:p.Leu458= |