Linked Data
ClinVar Variation Id:
230736
dbSNP Id:
rs876658737
gnomAD v3:
17-35100988-C-T
gnomAD v4:
17-35100988-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35100988C>T , CM000679.2:g.35100988C>T | GRCh38 |
| NC_000017.10:g.33428007C>T , CM000679.1:g.33428007C>T | GRCh37 |
| NC_000017.9:g.30452120C>T | NCBI36 |
| NG_031858.1:g.23882G>A , LRG_516:g.23882G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.817G>A | ENSP00000468273.3:p.Glu273Lys | |
| ENST00000587405.6:c.595G>A | ENSP00000466478.2:p.Glu199Lys | |
| ENST00000590016.6:c.1012G>A | ENSP00000466399.1:p.Glu338Lys | |
| ENST00000592577.6:c.595G>A | ENSP00000466839.2:p.Glu199Lys | |
| ENST00000345365.11:c.952G>A MANE Select | ENSP00000338790.6:p.Glu318Lys | |
| ENST00000335858.11:c.616G>A | ENSP00000338408.6:p.Glu206Lys | |
| ENST00000345365.10:c.952G>A | ENSP00000338790.6:p.Glu318Lys | |
| ENST00000394589.8:c.952G>A | ENSP00000378090.4:p.Glu318Lys | |
| ENST00000460118.6:c.421G>A | ENSP00000464356.2:p.Glu141Lys | |
| ENST00000586044.5:c.*683G>A | ENSP00000465584.1:n.*683G>A | |
| ENST00000586210.5:c.*546G>A | ENSP00000465612.1:n.*546G>A | |
| ENST00000587977.5:c.*692G>A | ENSP00000466587.1:n.*692G>A | |
| ENST00000588372.5:c.*435G>A | ENSP00000468764.1:n.*435G>A | |
| ENST00000588594.5:c.*548G>A | ENSP00000465366.1:n.*548G>A | |
| ENST00000590016.5:c.1012G>A | ENSP00000466399.1:p.Glu338Lys | |
| ENST00000591723.5:c.372+213G>A | ENSP00000467986.1:n.372+213G>A | |
| ENST00000592181.1:c.546+213G>A | ENSP00000464799.1:n.546+213G>A | |
| ENST00000593039.5:c.426+213G>A | ENSP00000466834.1:n.426+213G>A | |
| NM_001142571.1:c.1012G>A | NP_001136043.1:p.Glu338Lys | |
| NM_002878.3:c.952G>A , LRG_516t1:c.952G>A | NP_002869.3:p.Glu318Lys | |
| NM_133629.2:c.616G>A | NP_598332.1:p.Glu206Lys | |
| NR_037711.1:n.1089G>A | ||
| NR_037712.1:n.954G>A | ||
| NR_037714.1:n.655+213G>A | ||
| NM_001142571.2:c.1012G>A | NP_001136043.1:p.Glu338Lys | |
| NM_133629.3:c.616G>A | NP_598332.1:p.Glu206Lys | |
| NR_037711.2:n.978G>A | ||
| NR_037712.2:n.843G>A | ||
| NM_002878.4:c.952G>A MANE Select | NP_002869.3:p.Glu318Lys |