Linked Data
ClinVar Variation Id:
391414
dbSNP Id:
rs751236287
ExAC:
2:179497712 C / T
gnomAD v2:
2-179497712-C-T
gnomAD v3:
2-178632985-C-T
gnomAD v4:
2-178632985-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632985C>T , CM000664.2:g.178632985C>T | GRCh38 |
| NC_000002.11:g.179497712C>T , CM000664.1:g.179497712C>T | GRCh37 |
| NC_000002.10:g.179205957C>T | NCBI36 |
| NG_011618.3:g.202818G>A , LRG_391:g.202818G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35442G>A | ENSP00000343764.6:p.Leu11814= | |
| ENST00000342175.11:c.16527G>A | ENSP00000340554.6:p.Leu5509= | |
| ENST00000359218.10:c.16326G>A | ENSP00000352154.5:p.Leu5442= | |
| ENST00000342175.10:c.16527G>A | ENSP00000340554.6:p.Leu5509= | |
| ENST00000342992.10:c.35442G>A | ENSP00000343764.6:p.Leu11814= | |
| ENST00000359218.9:c.16326G>A | ENSP00000352154.5:p.Leu5442= | |
| ENST00000460472.6:c.15951G>A | ENSP00000434586.1:p.Leu5317= | |
| ENST00000589042.5:c.43146G>A MANE Select | ENSP00000467141.1:p.Leu14382= | |
| ENST00000591111.5:c.38223G>A | ENSP00000465570.1:p.Leu12741= | |
| ENST00000615779.4:c.38223G>A | ENSP00000483597.1:p.Leu12741= | |
| NM_001256850.1:c.38223G>A | NP_001243779.1:p.Leu12741= | |
| NM_001267550.2:c.43146G>A MANE Select | NP_001254479.2:p.Leu14382= | |
| NM_003319.4:c.15951G>A | NP_003310.4:p.Leu5317= | |
| NM_133378.4:c.35442G>A | NP_596869.4:p.Leu11814= | |
| NM_133432.3:c.16326G>A | NP_597676.3:p.Leu5442= | |
| NM_133437.4:c.16527G>A | NP_597681.4:p.Leu5509= | |
| XM_011511729.1:c.42243G>A | XP_011510031.1:p.Leu14081= | |
| XM_011511730.1:c.16137G>A | XP_011510032.1:p.Leu5379= | |
| XM_011511731.1:c.15996G>A | XP_011510033.1:p.Leu5332= | |
| XM_017004819.1:c.42039G>A | XP_016860308.1:p.Leu14013= | |
| XM_017004820.1:c.37437G>A | XP_016860309.1:p.Leu12479= | |
| XM_017004821.1:c.37434G>A | XP_016860310.1:p.Leu12478= | |
| XM_017004822.1:c.34476G>A | XP_016860311.1:p.Leu11492= | |
| XM_017004823.1:c.16092G>A | XP_016860312.1:p.Leu5364= | |
| XM_024453094.1:c.37587G>A | XP_024308862.1:p.Leu12529= | |
| XM_024453095.1:c.37584G>A | XP_024308863.1:p.Leu12528= | |
| XM_024453096.1:c.37017G>A | XP_024308864.1:p.Leu12339= | |
| XM_024453097.1:c.34359G>A | XP_024308865.1:p.Leu11453= | |
| XM_024453098.1:c.34278G>A | XP_024308866.1:p.Leu11426= | |
| XM_024453099.1:c.16041G>A | XP_024308867.1:p.Leu5347= | |
| XM_024453100.1:c.5895G>A | XP_024308868.1:p.Leu1965= |