Linked Data
ClinVar Variation Id:
2008763
ClinVar RCV Id:
RCV002816675
dbSNP Id:
rs2056094149
gnomAD v4:
17-42911280-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911280G>A , CM000679.2:g.42911280G>A | GRCh38 |
| NC_000017.10:g.41063297G>A , CM000679.1:g.41063297G>A | GRCh37 |
| NC_000017.9:g.38316823G>A | NCBI36 |
| NG_011808.1:g.15483G>A , LRG_147:g.15483G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.928G>A MANE Select | ENSP00000253801.1:p.Asp310Asn | |
| ENST00000253801.6:c.928G>A | ENSP00000253801.1:p.Asp310Asn | |
| ENST00000585489.1:c.*320G>A | ENSP00000466202.1:n.*320G>A | |
| ENST00000592383.5:c.*320G>A | ENSP00000465958.1:n.*320G>A | |
| NM_000151.3:c.928G>A | NP_000142.2:p.Asp310Asn | |
| NM_001270397.1:c.*320G>A | NP_001257326.1:n.*320G>A | |
| NM_000151.4:c.928G>A MANE Select | NP_000142.2:p.Asp310Asn | |
| NM_001270397.2:c.*320G>A | NP_001257326.1:n.*320G>A |