Linked Data
ClinVar Variation Id:
223276
ClinVar RCV Id:
RCV000209593
dbSNP Id:
rs869312046
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178620798A>C , CM000664.2:g.178620798A>C | GRCh38 |
| NC_000002.11:g.179485525A>C , CM000664.1:g.179485525A>C | GRCh37 |
| NC_000002.10:g.179193770A>C | NCBI36 |
| NG_011618.3:g.215005T>G , LRG_391:g.215005T>G | |
| NG_051363.1:g.102972A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.38108T>G | ENSP00000343764.6:p.Leu12703Ter | |
| ENST00000342175.11:c.19193T>G | ENSP00000340554.6:p.Leu6398Ter | |
| ENST00000359218.10:c.18992T>G | ENSP00000352154.5:p.Leu6331Ter | |
| ENST00000342175.10:c.19193T>G | ENSP00000340554.6:p.Leu6398Ter | |
| ENST00000342992.10:c.38108T>G | ENSP00000343764.6:p.Leu12703Ter | |
| ENST00000359218.9:c.18992T>G | ENSP00000352154.5:p.Leu6331Ter | |
| ENST00000460472.6:c.18617T>G | ENSP00000434586.1:p.Leu6206Ter | |
| ENST00000589042.5:c.45812T>G MANE Select | ENSP00000467141.1:p.Leu15271Ter | |
| ENST00000591111.5:c.40889T>G | ENSP00000465570.1:p.Leu13630Ter | |
| ENST00000615779.4:c.40889T>G | ENSP00000483597.1:p.Leu13630Ter | |
| NM_001256850.1:c.40889T>G | NP_001243779.1:p.Leu13630Ter | |
| NM_001267550.2:c.45812T>G MANE Select | NP_001254479.2:p.Leu15271Ter | |
| NM_003319.4:c.18617T>G | NP_003310.4:p.Leu6206Ter | |
| NM_133378.4:c.38108T>G | NP_596869.4:p.Leu12703Ter | |
| NM_133432.3:c.18992T>G | NP_597676.3:p.Leu6331Ter | |
| NM_133437.4:c.19193T>G | NP_597681.4:p.Leu6398Ter | |
| XM_011511729.1:c.44909T>G | XP_011510031.1:p.Leu14970Ter | |
| XM_011511730.1:c.18803T>G | XP_011510032.1:p.Leu6268Ter | |
| XM_011511731.1:c.18662T>G | XP_011510033.1:p.Leu6221Ter | |
| XM_017004819.1:c.44705T>G | XP_016860308.1:p.Leu14902Ter | |
| XM_017004820.1:c.40103T>G | XP_016860309.1:p.Leu13368Ter | |
| XM_017004821.1:c.40100T>G | XP_016860310.1:p.Leu13367Ter | |
| XM_017004822.1:c.37142T>G | XP_016860311.1:p.Leu12381Ter | |
| XM_017004823.1:c.18758T>G | XP_016860312.1:p.Leu6253Ter | |
| XM_024453094.1:c.40253T>G | XP_024308862.1:p.Leu13418Ter | |
| XM_024453095.1:c.40250T>G | XP_024308863.1:p.Leu13417Ter | |
| XM_024453096.1:c.39683T>G | XP_024308864.1:p.Leu13228Ter | |
| XM_024453097.1:c.37025T>G | XP_024308865.1:p.Leu12342Ter | |
| XM_024453098.1:c.36944T>G | XP_024308866.1:p.Leu12315Ter | |
| XM_024453099.1:c.18707T>G | XP_024308867.1:p.Leu6236Ter | |
| XM_024453100.1:c.8561T>G | XP_024308868.1:p.Leu2854Ter |