Linked Data
ClinVar Variation Id:
263732
ClinVar RCV Id:
RCV000250405
RCV000868062
RCV001133752
RCV001133753
RCV001133754
RCV001133755
RCV001135244
RCV001705387
RCV003114434
RCV003967684
dbSNP Id:
rs373298007
ExAC:
2:179495039 C / A
gnomAD v2:
2-179495039-C-A
gnomAD v3:
2-178630312-C-A
gnomAD v4:
2-178630312-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178630312C>A , CM000664.2:g.178630312C>A | GRCh38 |
| NC_000002.11:g.179495039C>A , CM000664.1:g.179495039C>A | GRCh37 |
| NC_000002.10:g.179203284C>A | NCBI36 |
| NG_011618.3:g.205491G>T , LRG_391:g.205491G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.36506G>T | ENSP00000343764.6:p.Arg12169Leu | |
| ENST00000342175.11:c.17591G>T | ENSP00000340554.6:p.Arg5864Leu | |
| ENST00000359218.10:c.17390G>T | ENSP00000352154.5:p.Arg5797Leu | |
| ENST00000342175.10:c.17591G>T | ENSP00000340554.6:p.Arg5864Leu | |
| ENST00000342992.10:c.36506G>T | ENSP00000343764.6:p.Arg12169Leu | |
| ENST00000359218.9:c.17390G>T | ENSP00000352154.5:p.Arg5797Leu | |
| ENST00000460472.6:c.17015G>T | ENSP00000434586.1:p.Arg5672Leu | |
| ENST00000589042.5:c.44210G>T MANE Select | ENSP00000467141.1:p.Arg14737Leu | |
| ENST00000591111.5:c.39287G>T | ENSP00000465570.1:p.Arg13096Leu | |
| ENST00000615779.4:c.39287G>T | ENSP00000483597.1:p.Arg13096Leu | |
| NM_001256850.1:c.39287G>T | NP_001243779.1:p.Arg13096Leu | |
| NM_001267550.2:c.44210G>T MANE Select | NP_001254479.2:p.Arg14737Leu | |
| NM_003319.4:c.17015G>T | NP_003310.4:p.Arg5672Leu | |
| NM_133378.4:c.36506G>T | NP_596869.4:p.Arg12169Leu | |
| NM_133432.3:c.17390G>T | NP_597676.3:p.Arg5797Leu | |
| NM_133437.4:c.17591G>T | NP_597681.4:p.Arg5864Leu | |
| XM_011511729.1:c.43307G>T | XP_011510031.1:p.Arg14436Leu | |
| XM_011511730.1:c.17201G>T | XP_011510032.1:p.Arg5734Leu | |
| XM_011511731.1:c.17060G>T | XP_011510033.1:p.Arg5687Leu | |
| XM_017004819.1:c.43103G>T | XP_016860308.1:p.Arg14368Leu | |
| XM_017004820.1:c.38501G>T | XP_016860309.1:p.Arg12834Leu | |
| XM_017004821.1:c.38498G>T | XP_016860310.1:p.Arg12833Leu | |
| XM_017004822.1:c.35540G>T | XP_016860311.1:p.Arg11847Leu | |
| XM_017004823.1:c.17156G>T | XP_016860312.1:p.Arg5719Leu | |
| XM_024453094.1:c.38651G>T | XP_024308862.1:p.Arg12884Leu | |
| XM_024453095.1:c.38648G>T | XP_024308863.1:p.Arg12883Leu | |
| XM_024453096.1:c.38081G>T | XP_024308864.1:p.Arg12694Leu | |
| XM_024453097.1:c.35423G>T | XP_024308865.1:p.Arg11808Leu | |
| XM_024453098.1:c.35342G>T | XP_024308866.1:p.Arg11781Leu | |
| XM_024453099.1:c.17105G>T | XP_024308867.1:p.Arg5702Leu | |
| XM_024453100.1:c.6959G>T | XP_024308868.1:p.Arg2320Leu |