Linked Data
ClinVar Variation Id:
127898
dbSNP Id:
rs587780106
gnomAD v2:
17-33427986-C-T
gnomAD v3:
17-35100967-C-T
gnomAD v4:
17-35100967-C-T
PubMed:
PMID:25980754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35100967C>T , CM000679.2:g.35100967C>T | GRCh38 |
| NC_000017.10:g.33427986C>T , CM000679.1:g.33427986C>T | GRCh37 |
| NC_000017.9:g.30452099C>T | NCBI36 |
| NG_031858.1:g.23903G>A , LRG_516:g.23903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.838G>A | ENSP00000468273.3:p.Gly280Ser | |
| ENST00000587405.6:c.616G>A | ENSP00000466478.2:p.Gly206Ser | |
| ENST00000590016.6:c.1033G>A | ENSP00000466399.1:p.Gly345Ser | |
| ENST00000592577.6:c.616G>A | ENSP00000466839.2:p.Gly206Ser | |
| ENST00000345365.11:c.973G>A MANE Select | ENSP00000338790.6:p.Gly325Ser | |
| ENST00000335858.11:c.637G>A | ENSP00000338408.6:p.Gly213Ser | |
| ENST00000345365.10:c.973G>A | ENSP00000338790.6:p.Gly325Ser | |
| ENST00000394589.8:c.973G>A | ENSP00000378090.4:p.Gly325Ser | |
| ENST00000460118.6:c.442G>A | ENSP00000464356.2:p.Gly148Ser | |
| ENST00000586044.5:c.*704G>A | ENSP00000465584.1:n.*704G>A | |
| ENST00000586210.5:c.*567G>A | ENSP00000465612.1:n.*567G>A | |
| ENST00000587977.5:c.*713G>A | ENSP00000466587.1:n.*713G>A | |
| ENST00000588372.5:c.*456G>A | ENSP00000468764.1:n.*456G>A | |
| ENST00000588594.5:c.*569G>A | ENSP00000465366.1:n.*569G>A | |
| ENST00000590016.5:c.1033G>A | ENSP00000466399.1:p.Gly345Ser | |
| ENST00000591723.5:c.372+234G>A | ENSP00000467986.1:n.372+234G>A | |
| ENST00000592181.1:c.546+234G>A | ENSP00000464799.1:n.546+234G>A | |
| ENST00000593039.5:c.426+234G>A | ENSP00000466834.1:n.426+234G>A | |
| NM_001142571.1:c.1033G>A | NP_001136043.1:p.Gly345Ser | |
| NM_002878.3:c.973G>A , LRG_516t1:c.973G>A | NP_002869.3:p.Gly325Ser | |
| NM_133629.2:c.637G>A | NP_598332.1:p.Gly213Ser | |
| NR_037711.1:n.1110G>A | ||
| NR_037712.1:n.975G>A | ||
| NR_037714.1:n.655+234G>A | ||
| NM_001142571.2:c.1033G>A | NP_001136043.1:p.Gly345Ser | |
| NM_133629.3:c.637G>A | NP_598332.1:p.Gly213Ser | |
| NR_037711.2:n.999G>A | ||
| NR_037712.2:n.864G>A | ||
| NM_002878.4:c.973G>A MANE Select | NP_002869.3:p.Gly325Ser |