Linked Data
ClinVar Variation Id:
1053517
ClinVar RCV Id:
RCV001361874
dbSNP Id:
rs759095800
ExAC:
8:11606592 C / G
gnomAD v2:
8-11606592-C-G
gnomAD v3:
8-11749083-C-G
gnomAD v4:
8-11749083-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11749083C>G , CM000670.2:g.11749083C>G | GRCh38 |
| NC_000008.10:g.11606592C>G , CM000670.1:g.11606592C>G | GRCh37 |
| NC_000008.9:g.11644001C>G | NCBI36 |
| NG_008177.2:g.77165C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622443.3:c.781C>G | ENSP00000482268.2:p.Leu261Val | |
| ENST00000532059.6:c.784C>G MANE Select | ENSP00000435712.1:p.Leu262Val | |
| ENST00000335135.8:c.781C>G | ENSP00000334458.4:p.Leu261Val | |
| ENST00000526716.5:c.163C>G | ENSP00000435347.1:p.Leu55Val | |
| ENST00000528712.5:c.163C>G | ENSP00000435043.1:p.Leu55Val | |
| ENST00000532059.5:c.784C>G | ENSP00000435712.1:p.Leu262Val | |
| ENST00000622443.2:c.778C>G | ENSP00000482268.1:p.Leu260Val | |
| NM_001308093.1:c.784C>G | NP_001295022.1:p.Leu262Val | |
| NM_001308094.1:c.163C>G | NP_001295023.1:p.Leu55Val | |
| NM_002052.3:c.781C>G | NP_002043.2:p.Leu261Val | |
| NM_002052.4:c.781C>G | NP_002043.2:p.Leu261Val | |
| XM_005272385.3:c.784C>G | XP_005272442.1:p.Leu262Val | |
| XM_005272386.1:c.784C>G | XP_005272443.1:p.Leu262Val | |
| XM_006716248.1:c.784C>G | XP_006716311.1:p.Leu262Val | |
| XM_011543817.1:c.784C>G | XP_011542119.1:p.Leu262Val | |
| XM_011543818.1:c.784C>G | XP_011542120.1:p.Leu262Val | |
| XM_005272385.4:c.784C>G | XP_005272442.1:p.Leu262Val | |
| XM_011543817.3:c.784C>G | XP_011542119.1:p.Leu262Val | |
| XM_011543818.2:c.784C>G | XP_011542120.1:p.Leu262Val | |
| XM_017013312.2:c.784C>G | XP_016868801.1:p.Leu262Val | |
| NM_001308093.3:c.784C>G MANE Select | NP_001295022.1:p.Leu262Val | |
| NM_001308094.2:c.163C>G | NP_001295023.1:p.Leu55Val | |
| NM_001374273.1:c.163C>G | NP_001361202.1:p.Leu55Val | |
| NM_001374274.1:c.163C>G | NP_001361203.1:p.Leu55Val | |
| NM_002052.5:c.781C>G | NP_002043.2:p.Leu261Val |