Linked Data
ClinVar Variation Id:
1583206
ClinVar RCV Id:
RCV002111404
dbSNP Id:
rs1284550674
gnomAD v2:
17-6607278-A-G
gnomAD v3:
17-6703959-A-G
gnomAD v4:
17-6703959-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6703959A>G , CM000679.2:g.6703959A>G | GRCh38 |
| NC_000017.10:g.6607278A>G , CM000679.1:g.6607278A>G | GRCh37 |
| NC_000017.9:g.6548002A>G | NCBI36 |
| NG_034220.1:g.14463T>C , LRG_1020:g.14463T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.466T>C MANE Select | ENSP00000406220.2:p.Leu156= | |
| ENST00000293800.10:c.415T>C | ENSP00000293800.6:p.Leu139= | |
| ENST00000381074.8:c.337T>C | ENSP00000370464.4:p.Leu113= | |
| ENST00000433363.6:c.466T>C | ENSP00000406220.2:p.Leu156= | |
| ENST00000572094.1:c.*216T>C | ENSP00000461495.1:n.*216T>C | |
| ENST00000572352.5:c.355T>C | ENSP00000461622.1:p.Leu119= | |
| ENST00000573648.5:c.466T>C | ENSP00000459372.1:p.Leu156= | |
| ENST00000574824.5:n.1599T>C | ||
| ENST00000576323.1:n.496T>C | ||
| NM_001143838.2:c.466T>C | NP_001137310.1:p.Leu156= | |
| NM_001284509.1:c.415T>C | NP_001271438.1:p.Leu139= | |
| NM_001284510.1:c.337T>C | NP_001271439.1:p.Leu113= | |
| NM_177550.4:c.466T>C , LRG_1020t1:c.466T>C | NP_808218.1:p.Leu156= | |
| XM_006721504.2:c.355T>C | XP_006721567.1:p.Leu119= | |
| XM_011523795.1:c.466T>C | XP_011522097.1:p.Leu156= | |
| XM_011523795.3:c.466T>C | XP_011522097.1:p.Leu156= | |
| NM_001143838.3:c.466T>C | NP_001137310.1:p.Leu156= | |
| NM_001284509.2:c.415T>C | NP_001271438.1:p.Leu139= | |
| NM_001284510.2:c.337T>C | NP_001271439.1:p.Leu113= | |
| NM_177550.5:c.466T>C MANE Select | NP_808218.1:p.Leu156= |