Linked Data
ClinVar Variation Id:
2074906
ClinVar RCV Id:
RCV002982342
dbSNP Id:
rs538825686
ExAC:
8:55540573 C / G
gnomAD v2:
8-55540573-C-G
gnomAD v4:
8-54628013-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54628013C>G , CM000670.2:g.54628013C>G | GRCh38 |
| NC_000008.10:g.55540573C>G , CM000670.1:g.55540573C>G | GRCh37 |
| NC_000008.9:g.55703126C>G | NCBI36 |
| NG_009840.1:g.16947C>G | |
| NG_009840.2:g.16947C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.4131C>G MANE Select | ENSP00000220676.1:p.Asp1377Glu | |
| ENST00000636932.1:c.787+5725C>G | ENSP00000489857.1:n.787+5725C>G | |
| ENST00000637698.1:c.787+5725C>G | ENSP00000490104.1:n.787+5725C>G | |
| ENST00000220676.1:c.4131C>G | ENSP00000220676.1:p.Asp1377Glu | |
| NM_006269.1:c.4131C>G | NP_006260.1:p.Asp1377Glu | |
| XM_017013721.1:c.4152C>G | XP_016869210.1:p.Asp1384Glu | |
| XM_017013722.1:c.4131C>G | XP_016869211.1:p.Asp1377Glu | |
| NM_001375654.1:c.787+5725C>G | NP_001362583.1:n.787+5725C>G | |
| NM_006269.2:c.4131C>G MANE Select | NP_006260.1:p.Asp1377Glu |