Linked Data
ClinVar Variation Id:
834549
ClinVar RCV Id:
RCV001035259
dbSNP Id:
rs541289584
gnomAD v2:
2-220146776-G-C
gnomAD v3:
2-219282054-G-C
gnomAD v4:
2-219282054-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219282054G>C , CM000664.2:g.219282054G>C | GRCh38 |
| NC_000002.11:g.220146776G>C , CM000664.1:g.220146776G>C | GRCh37 |
| NC_000002.10:g.219855020G>C | NCBI36 |
| NG_029553.1:g.7737G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683651.1:n.1048G>C | ||
| ENST00000684599.1:n.552G>C | ||
| ENST00000336576.10:c.345G>C MANE Select | ENSP00000338019.5:p.Glu115Asp | |
| ENST00000336576.9:c.345G>C | ENSP00000338019.5:p.Glu115Asp | |
| ENST00000392086.8:c.345G>C | ENSP00000375936.4:p.Glu115Asp | |
| ENST00000392087.6:c.345G>C | ENSP00000375937.2:p.Glu115Asp | |
| ENST00000421532.5:c.345G>C | ENSP00000395173.1:p.Glu115Asp | |
| ENST00000425450.5:c.345G>C | ENSP00000414796.1:p.Glu115Asp | |
| ENST00000439026.1:c.345G>C | ENSP00000387951.1:p.Glu115Asp | |
| ENST00000442681.5:c.345G>C | ENSP00000392790.1:p.Glu115Asp | |
| ENST00000463463.5:n.336G>C | ||
| ENST00000477917.5:n.1563G>C | ||
| ENST00000480537.5:n.533G>C | ||
| ENST00000487855.1:n.245G>C | ||
| NM_001039550.1:c.345G>C | NP_001034639.1:p.Glu115Asp | |
| NM_006736.5:c.345G>C | NP_006727.2:p.Glu115Asp | |
| NM_001039550.2:c.345G>C | NP_001034639.1:p.Glu115Asp | |
| NM_006736.6:c.345G>C MANE Select | NP_006727.2:p.Glu115Asp |