Linked Data
ClinVar Variation Id:
1474010
ClinVar RCV Id:
RCV001970975
dbSNP Id:
rs1180470263
gnomAD v4:
12-102846919-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846919A>T , CM000674.2:g.102846919A>T | GRCh38 |
| NC_000012.11:g.103240697A>T , CM000674.1:g.103240697A>T | GRCh37 |
| NC_000012.10:g.101764827A>T | NCBI36 |
| NG_008690.1:g.75684T>A | |
| NG_008690.2:g.116492T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.945T>A MANE Select | ENSP00000448059.1:p.Asp315Glu | |
| ENST00000307000.7:c.930T>A | ENSP00000303500.2:p.Asp310Glu | |
| ENST00000549247.6:n.704T>A | ||
| ENST00000551114.2:n.607T>A | ||
| ENST00000553106.5:c.945T>A | ENSP00000448059.1:p.Asp315Glu | |
| ENST00000635477.1:c.74-2488T>A | ||
| ENST00000635528.1:n.460T>A | ||
| NM_000277.1:c.945T>A | NP_000268.1:p.Asp315Glu | |
| XM_011538422.1:c.913-2488T>A | XP_011536724.1:n.913-2488T>A | |
| NM_000277.2:c.945T>A | NP_000268.1:p.Asp315Glu | |
| NM_001354304.1:c.945T>A | NP_001341233.1:p.Asp315Glu | |
| NM_000277.3:c.945T>A MANE Select | NP_000268.1:p.Asp315Glu | |
| NM_001354304.2:c.945T>A | NP_001341233.1:p.Asp315Glu |