Linked Data
ClinVar Variation Id:
197043
dbSNP Id:
rs35219594
ExAC:
4:79353587 C / G
gnomAD v2:
4-79353587-C-G
gnomAD v3:
4-78432433-C-G
gnomAD v4:
4-78432433-C-G
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78432433C>G , CM000666.2:g.78432433C>G | GRCh38 |
| NC_000004.11:g.79353587C>G , CM000666.1:g.79353587C>G | GRCh37 |
| NC_000004.10:g.79572611C>G | NCBI36 |
| NG_015812.1:g.379864C>G | |
| NG_015812.2:g.379864C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325942.11:c.5046C>G | ENSP00000326330.6:p.Asp1682Glu | |
| ENST00000682513.1:c.5046C>G | ENSP00000508201.1:p.Asp1682Glu | |
| ENST00000684159.1:c.5046C>G | ENSP00000506875.1:p.Asp1682Glu | |
| ENST00000512123.4:c.5046C>G MANE Select | ENSP00000422834.2:p.Asp1682Glu | |
| ENST00000264899.10:c.845-11670C>G | ENSP00000264899.7:n.845-11670C>G | |
| ENST00000325942.10:c.5046C>G | ENSP00000326330.6:p.Asp1682Glu | |
| ENST00000510944.3:c.394C>G | ||
| ENST00000512123.3:c.5046C>G | ENSP00000422834.2:p.Asp1682Glu | |
| NM_001166133.1:c.5046C>G | NP_001159605.1:p.Asp1682Glu | |
| NM_025074.6:c.5046C>G | NP_079350.5:p.Asp1682Glu | |
| XM_006714314.1:c.5040C>G | XP_006714377.1:p.Asp1680Glu | |
| XM_006714316.1:c.5046C>G | XP_006714379.1:p.Asp1682Glu | |
| XM_011532270.1:c.2745C>G | XP_011530572.1:p.Asp915Glu | |
| XM_011532271.1:c.105+2016C>G | XP_011530573.1:n.105+2016C>G | |
| XM_006714316.3:c.5046C>G | XP_006714379.1:p.Asp1682Glu | |
| NM_025074.7:c.5046C>G MANE Select | NP_079350.5:p.Asp1682Glu | |
| NM_001166133.2:c.5046C>G | NP_001159605.1:p.Asp1682Glu |