Linked Data
ClinVar Variation Id:
403238
dbSNP Id:
rs34716166
ExAC:
2:32460512 A / G
gnomAD v2:
2-32460512-A-G
gnomAD v3:
2-32235443-A-G
gnomAD v4:
2-32235443-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32235443A>G , CM000664.2:g.32235443A>G | GRCh38 |
| NC_000002.11:g.32460512A>G , CM000664.1:g.32460512A>G | GRCh37 |
| NC_000002.10:g.32314016A>G | NCBI36 |
| NG_041780.1:g.35301T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652197.2:c.433T>C | ENSP00000498301.2:p.Leu145= | |
| ENST00000402280.6:c.2740T>C MANE Select | ENSP00000385428.1:p.Leu914= | |
| ENST00000404025.3:c.*446T>C | ENSP00000385090.3:n.*446T>C | |
| ENST00000652197.1:c.*470T>C | ENSP00000498301.1:n.*470T>C | |
| ENST00000342905.10:c.745T>C | ENSP00000339666.6:p.Leu249= | |
| ENST00000360906.9:c.2740T>C | ENSP00000354159.5:p.Leu914= | |
| ENST00000402280.5:c.2740T>C | ENSP00000385428.1:p.Leu914= | |
| ENST00000404025.2:c.2740T>C | ENSP00000385090.2:p.Leu914= | |
| NM_001199138.1:c.2740T>C | NP_001186067.1:p.Leu914= | |
| NM_001199139.1:c.2740T>C | NP_001186068.1:p.Leu914= | |
| NM_001302504.1:c.745T>C | NP_001289433.1:p.Leu249= | |
| NM_021209.4:c.2740T>C | NP_067032.3:p.Leu914= | |
| XR_001738872.1:n.3006T>C | ||
| NM_001199138.2:c.2740T>C MANE Select | NP_001186067.1:p.Leu914= |