Linked Data
ClinVar Variation Id:
3005612
ClinVar RCV Id:
RCV003863699
dbSNP Id:
rs145524810
ExAC:
12:48367274 G / C
gnomAD v2:
12-48367274-G-C
gnomAD v3:
12-47973491-G-C
gnomAD v4:
12-47973491-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47973491G>C , CM000674.2:g.47973491G>C | GRCh38 |
| NC_000012.11:g.48367274G>C , CM000674.1:g.48367274G>C | GRCh37 |
| NC_000012.10:g.46653541G>C | NCBI36 |
| NG_008072.1:g.36012C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.4173C>G | ENSP00000338213.6:p.Leu1391= | |
| ENST00000380518.8:c.4380C>G MANE Select | ENSP00000369889.3:p.Leu1460= | |
| ENST00000337299.6:c.4173C>G | ENSP00000338213.6:p.Leu1391= | |
| ENST00000380518.7:c.4380C>G | ENSP00000369889.3:p.Leu1460= | |
| ENST00000493991.5:n.3466C>G | ||
| NM_001844.4:c.4380C>G | NP_001835.3:p.Leu1460= | |
| NM_033150.2:c.4173C>G | NP_149162.2:p.Leu1391= | |
| XM_006719242.2:c.4524C>G | XP_006719305.2:p.Leu1508= | |
| XM_011537928.1:c.4524C>G | XP_011536230.1:p.Leu1508= | |
| XM_011537929.1:c.4524C>G | XP_011536231.1:p.Leu1508= | |
| XM_011537930.1:c.4524C>G | XP_011536232.1:p.Leu1508= | |
| XM_011537931.1:c.4524C>G | XP_011536233.1:p.Leu1508= | |
| XM_011537932.1:c.4524C>G | XP_011536234.1:p.Leu1508= | |
| XM_011537933.1:c.4524C>G | XP_011536235.1:p.Leu1508= | |
| XM_011537934.1:c.4521C>G | XP_011536236.1:p.Leu1507= | |
| XM_011537935.1:c.3468C>G | XP_011536237.1:p.Leu1156= | |
| XM_017018828.1:c.4524C>G | XP_016874317.1:p.Leu1508= | |
| XM_017018829.1:c.4521C>G | XP_016874318.1:p.Leu1507= | |
| XM_017018830.1:c.4314C>G | XP_016874319.1:p.Leu1438= | |
| XM_017018831.2:c.3834C>G | XP_016874320.1:p.Leu1278= | |
| NM_001844.5:c.4380C>G MANE Select | NP_001835.3:p.Leu1460= | |
| NM_033150.3:c.4173C>G | NP_149162.2:p.Leu1391= |