Linked Data
ClinVar Variation Id:
443999
ClinVar RCV Id:
RCV000626483
dbSNP Id:
rs762384959
ExAC:
14:20924839 G / C
gnomAD v2:
14-20924839-G-C
gnomAD v4:
14-20456680-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20456680G>C , CM000676.2:g.20456680G>C | GRCh38 |
| NC_000014.8:g.20924839G>C , CM000676.1:g.20924839G>C | GRCh37 |
| NC_000014.7:g.19994679G>C | NCBI36 |
| NG_008718.1:g.6550G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.259G>C MANE Select | ENSP00000216714.3:p.Glu87Gln | |
| ENST00000216714.7:c.259G>C | ENSP00000216714.3:p.Glu87Gln | |
| ENST00000398030.8:c.259G>C | ENSP00000381111.4:p.Glu87Gln | |
| ENST00000438886.1:c.108G>C | ||
| ENST00000553555.5:n.679G>C | ||
| ENST00000553681.5:c.259G>C | ENSP00000451327.1:p.Glu87Gln | |
| ENST00000554325.1:c.*179G>C | ENSP00000450604.1:n.*179G>C | |
| ENST00000554813.5:n.325G>C | ||
| ENST00000555306.5:n.706G>C | ||
| ENST00000555414.5:c.259G>C | ENSP00000451979.1:p.Glu87Gln | |
| ENST00000555839.5:c.259G>C | ENSP00000452460.1:p.Glu87Gln | |
| ENST00000556054.5:c.259G>C | ENSP00000451170.1:p.Glu87Gln | |
| ENST00000557054.1:c.28-443G>C | ENSP00000452212.2:n.28-443G>C | |
| ENST00000557150.5:c.208G>C | ENSP00000452418.1:p.Glu70Gln | |
| ENST00000557159.5:n.875G>C | ||
| ENST00000557181.5:c.259G>C | ENSP00000452304.1:p.Glu87Gln | |
| ENST00000557344.5:c.259G>C | ENSP00000452137.1:p.Glu87Gln | |
| ENST00000557365.1:n.339G>C | ||
| ENST00000557592.5:c.208G>C | ENSP00000451060.1:p.Glu70Gln | |
| NM_001244249.1:c.259G>C | NP_001231178.1:p.Glu87Gln | |
| NM_001641.3:c.259G>C | NP_001632.2:p.Glu87Gln | |
| NM_080648.2:c.259G>C | NP_542379.1:p.Glu87Gln | |
| NM_080649.2:c.259G>C | NP_542380.1:p.Glu87Gln | |
| XM_005267581.3:c.259G>C | XP_005267638.1:p.Glu87Gln | |
| XM_005267582.3:c.208G>C | XP_005267639.1:p.Glu70Gln | |
| NM_001641.4:c.259G>C MANE Select | NP_001632.2:p.Glu87Gln | |
| NM_001244249.2:c.259G>C | NP_001231178.1:p.Glu87Gln | |
| NM_080648.3:c.259G>C | NP_542379.1:p.Glu87Gln | |
| NM_080649.3:c.259G>C | NP_542380.1:p.Glu87Gln |