Linked Data
ClinVar Variation Id:
2060337
ClinVar RCV Id:
RCV002947636
dbSNP Id:
rs35219594
ExAC:
4:79353587 C / A
gnomAD v2:
4-79353587-C-A
gnomAD v3:
4-78432433-C-A
gnomAD v4:
4-78432433-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78432433C>A , CM000666.2:g.78432433C>A | GRCh38 |
| NC_000004.11:g.79353587C>A , CM000666.1:g.79353587C>A | GRCh37 |
| NC_000004.10:g.79572611C>A | NCBI36 |
| NG_015812.1:g.379864C>A | |
| NG_015812.2:g.379864C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325942.11:c.5046C>A | ENSP00000326330.6:p.Asp1682Glu | |
| ENST00000682513.1:c.5046C>A | ENSP00000508201.1:p.Asp1682Glu | |
| ENST00000684159.1:c.5046C>A | ENSP00000506875.1:p.Asp1682Glu | |
| ENST00000512123.4:c.5046C>A MANE Select | ENSP00000422834.2:p.Asp1682Glu | |
| ENST00000264899.10:c.845-11670C>A | ENSP00000264899.7:n.845-11670C>A | |
| ENST00000325942.10:c.5046C>A | ENSP00000326330.6:p.Asp1682Glu | |
| ENST00000510944.3:c.394C>A | ||
| ENST00000512123.3:c.5046C>A | ENSP00000422834.2:p.Asp1682Glu | |
| NM_001166133.1:c.5046C>A | NP_001159605.1:p.Asp1682Glu | |
| NM_025074.6:c.5046C>A | NP_079350.5:p.Asp1682Glu | |
| XM_006714314.1:c.5040C>A | XP_006714377.1:p.Asp1680Glu | |
| XM_006714316.1:c.5046C>A | XP_006714379.1:p.Asp1682Glu | |
| XM_011532270.1:c.2745C>A | XP_011530572.1:p.Asp915Glu | |
| XM_011532271.1:c.105+2016C>A | XP_011530573.1:n.105+2016C>A | |
| XM_006714316.3:c.5046C>A | XP_006714379.1:p.Asp1682Glu | |
| NM_025074.7:c.5046C>A MANE Select | NP_079350.5:p.Asp1682Glu | |
| NM_001166133.2:c.5046C>A | NP_001159605.1:p.Asp1682Glu |