Linked Data
ClinVar Variation Id:
142102
dbSNP Id:
rs370228071
ExAC:
17:33430520 G / A
gnomAD v2:
17-33430520-G-A
gnomAD v3:
17-35103501-G-A
gnomAD v4:
17-35103501-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35103501G>A , CM000679.2:g.35103501G>A | GRCh38 |
| NC_000017.10:g.33430520G>A , CM000679.1:g.33430520G>A | GRCh37 |
| NC_000017.9:g.30454633G>A | NCBI36 |
| NG_031858.1:g.21369C>T , LRG_516:g.21369C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.485C>T | ENSP00000468273.3:p.Ser162Leu | |
| ENST00000587405.6:c.263C>T | ENSP00000466478.2:p.Ser88Leu | |
| ENST00000590016.6:c.680C>T | ENSP00000466399.1:p.Ser227Leu | |
| ENST00000592577.6:c.263C>T | ENSP00000466839.2:p.Ser88Leu | |
| ENST00000345365.11:c.620C>T MANE Select | ENSP00000338790.6:p.Ser207Leu | |
| ENST00000335858.11:c.284C>T | ENSP00000338408.6:p.Ser95Leu | |
| ENST00000345365.10:c.620C>T | ENSP00000338790.6:p.Ser207Leu | |
| ENST00000394589.8:c.620C>T | ENSP00000378090.4:p.Ser207Leu | |
| ENST00000460118.6:c.89C>T | ENSP00000464356.2:p.Ser30Leu | |
| ENST00000586044.5:c.*351C>T | ENSP00000465584.1:n.*351C>T | |
| ENST00000586210.5:c.*214C>T | ENSP00000465612.1:n.*214C>T | |
| ENST00000587405.5:c.263C>T | ENSP00000466478.1:p.Ser88Leu | |
| ENST00000587977.5:c.*360C>T | ENSP00000466587.1:n.*360C>T | |
| ENST00000588372.5:c.*103C>T | ENSP00000468764.1:n.*103C>T | |
| ENST00000588594.5:c.*216C>T | ENSP00000465366.1:n.*216C>T | |
| ENST00000590016.5:c.680C>T | ENSP00000466399.1:p.Ser227Leu | |
| ENST00000591723.5:c.89C>T | ENSP00000467986.1:p.Ser30Leu | |
| ENST00000592181.1:c.263C>T | ENSP00000464799.1:p.Ser88Leu | |
| ENST00000592577.5:c.626C>T | ENSP00000466839.1:p.Ser209Leu | |
| ENST00000593039.5:c.143C>T | ENSP00000466834.1:p.Ser48Leu | |
| NM_001142571.1:c.680C>T | NP_001136043.1:p.Ser227Leu | |
| NM_002878.3:c.620C>T , LRG_516t1:c.620C>T | NP_002869.3:p.Ser207Leu | |
| NM_133629.2:c.284C>T | NP_598332.1:p.Ser95Leu | |
| NR_037711.1:n.757C>T | ||
| NR_037712.1:n.622C>T | ||
| NR_037714.1:n.372C>T | ||
| NM_001142571.2:c.680C>T | NP_001136043.1:p.Ser227Leu | |
| NM_133629.3:c.284C>T | NP_598332.1:p.Ser95Leu | |
| NR_037711.2:n.646C>T | ||
| NR_037712.2:n.511C>T | ||
| NM_002878.4:c.620C>T MANE Select | NP_002869.3:p.Ser207Leu |