Linked Data
ClinVar Variation Id:
287751
dbSNP Id:
rs139114389
ExAC:
12:48369200 G / C
gnomAD v2:
12-48369200-G-C
gnomAD v3:
12-47975417-G-C
gnomAD v4:
12-47975417-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47975417G>C , CM000674.2:g.47975417G>C | GRCh38 |
| NC_000012.11:g.48369200G>C , CM000674.1:g.48369200G>C | GRCh37 |
| NC_000012.10:g.46655467G>C | NCBI36 |
| NG_008072.1:g.34086C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.3579C>G | ENSP00000338213.6:p.Leu1193= | |
| ENST00000380518.8:c.3786C>G MANE Select | ENSP00000369889.3:p.Leu1262= | |
| ENST00000337299.6:c.3579C>G | ENSP00000338213.6:p.Leu1193= | |
| ENST00000380518.7:c.3786C>G | ENSP00000369889.3:p.Leu1262= | |
| ENST00000493991.5:n.2872C>G | ||
| ENST00000546974.1:n.639C>G | ||
| NM_001844.4:c.3786C>G | NP_001835.3:p.Leu1262= | |
| NM_033150.2:c.3579C>G | NP_149162.2:p.Leu1193= | |
| XM_006719242.2:c.3930C>G | XP_006719305.2:p.Leu1310= | |
| XM_011537928.1:c.3930C>G | XP_011536230.1:p.Leu1310= | |
| XM_011537929.1:c.3930C>G | XP_011536231.1:p.Leu1310= | |
| XM_011537930.1:c.3930C>G | XP_011536232.1:p.Leu1310= | |
| XM_011537931.1:c.3930C>G | XP_011536233.1:p.Leu1310= | |
| XM_011537932.1:c.3930C>G | XP_011536234.1:p.Leu1310= | |
| XM_011537933.1:c.3930C>G | XP_011536235.1:p.Leu1310= | |
| XM_011537934.1:c.3927C>G | XP_011536236.1:p.Leu1309= | |
| XM_011537935.1:c.2874C>G | XP_011536237.1:p.Leu958= | |
| XM_017018828.1:c.3930C>G | XP_016874317.1:p.Leu1310= | |
| XM_017018829.1:c.3927C>G | XP_016874318.1:p.Leu1309= | |
| XM_017018830.1:c.3720C>G | XP_016874319.1:p.Leu1240= | |
| XM_017018831.2:c.3240C>G | XP_016874320.1:p.Leu1080= | |
| NM_001844.5:c.3786C>G MANE Select | NP_001835.3:p.Leu1262= | |
| NM_033150.3:c.3579C>G | NP_149162.2:p.Leu1193= |