Linked Data
ClinVar Variation Id:
1534660
ClinVar RCV Id:
RCV002072474
dbSNP Id:
rs1425776189
gnomAD v2:
1-113459896-A-G
gnomAD v4:
1-112917274-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112917274A>G , CM000663.2:g.112917274A>G | GRCh38 |
| NC_000001.10:g.113459896A>G , CM000663.1:g.113459896A>G | GRCh37 |
| NC_000001.9:g.113261419A>G | NCBI36 |
| NG_015880.2:g.43655T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369626.8:c.1132T>C MANE Select | ENSP00000358640.4:p.Leu378= | |
| ENST00000429288.2:c.1132T>C | ENSP00000397106.2:p.Leu378= | |
| ENST00000443580.6:c.1132T>C | ENSP00000399104.2:p.Leu378= | |
| ENST00000458229.6:c.1132T>C | ENSP00000416167.2:p.Leu378= | |
| ENST00000679803.1:c.1132T>C | ENSP00000505879.1:p.Leu378= | |
| ENST00000679846.1:n.2049T>C | ||
| ENST00000369626.7:c.1132T>C | ENSP00000358640.3:p.Leu378= | |
| ENST00000458229.5:c.1132T>C | ENSP00000416167.1:p.Leu378= | |
| ENST00000538576.5:c.1132T>C | ENSP00000441065.1:p.Leu378= | |
| NM_001166496.1:c.1132T>C | NP_001159968.1:p.Leu378= | |
| NM_003051.3:c.1132T>C | NP_003042.3:p.Leu378= | |
| XM_011542026.1:c.1132T>C | XP_011540328.1:p.Leu378= | |
| XM_011542027.1:c.1132T>C | XP_011540329.1:p.Leu378= | |
| NM_003051.4:c.1132T>C MANE Select | NP_003042.3:p.Leu378= | |
| NM_001166496.2:c.1132T>C | NP_001159968.1:p.Leu378= |