Linked Data
ClinVar Variation Id:
2108896
ClinVar RCV Id:
RCV003017749
dbSNP Id:
rs780574835
ExAC:
2:55870298 T / A
gnomAD v2:
2-55870298-T-A
gnomAD v4:
2-55643163-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55643163T>A , CM000664.2:g.55643163T>A | GRCh38 |
| NC_000002.11:g.55870298T>A , CM000664.1:g.55870298T>A | GRCh37 |
| NC_000002.10:g.55723802T>A | NCBI36 |
| NG_033012.1:g.55748A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.2064A>T MANE Select | ENSP00000400646.2:p.Glu688Asp | |
| ENST00000260604.8:c.*1606A>T | ENSP00000260604.4:n.*1606A>T | |
| ENST00000415374.5:c.2064A>T | ENSP00000393953.1:p.Glu688Asp | |
| ENST00000447944.6:c.2064A>T | ENSP00000400646.2:p.Glu688Asp | |
| ENST00000481066.1:n.1126A>T | ||
| NM_033109.4:c.2064A>T | NP_149100.2:p.Glu688Asp | |
| XM_005264629.1:c.1824A>T | XP_005264686.1:p.Glu608Asp | |
| XM_005264629.2:c.1824A>T | XP_005264686.1:p.Glu608Asp | |
| XM_017005172.1:c.1824A>T | XP_016860661.1:p.Glu608Asp | |
| NM_033109.5:c.2064A>T MANE Select | NP_149100.2:p.Glu688Asp |