Linked Data
ClinVar Variation Id:
2954086
ClinVar RCV Id:
RCV003813309
dbSNP Id:
rs1286621867
gnomAD v2:
2-219757957-G-A
gnomAD v4:
2-218893235-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893235G>A , CM000664.2:g.218893235G>A | GRCh38 |
| NC_000002.11:g.219757957G>A , CM000664.1:g.219757957G>A | GRCh37 |
| NC_000002.10:g.219466201G>A | NCBI36 |
| NG_012179.1:g.17703G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1218G>A MANE Select | ENSP00000258411.3:p.Glu406= | |
| ENST00000258411.7:c.1218G>A | ENSP00000258411.3:p.Glu406= | |
| ENST00000489887.1:n.15G>A | ||
| NM_025216.2:c.1218G>A | NP_079492.2:p.Glu406= | |
| XM_011511928.1:c.1167G>A | XP_011510230.1:p.Glu389= | |
| XM_011511929.1:c.1122G>A | XP_011510231.1:p.Glu374= | |
| XM_011511930.1:c.838G>A | XP_011510232.1:p.Val280Met | |
| XM_011511929.2:c.1122G>A | XP_011510231.1:p.Glu374= | |
| NM_025216.3:c.1218G>A MANE Select | NP_079492.2:p.Glu406= |