Linked Data
ClinVar Variation Id:
1430121
ClinVar RCV Id:
RCV001952377
dbSNP Id:
rs1175357628
gnomAD v2:
8-55540756-T-A
gnomAD v4:
8-54628196-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54628196T>A , CM000670.2:g.54628196T>A | GRCh38 |
| NC_000008.10:g.55540756T>A , CM000670.1:g.55540756T>A | GRCh37 |
| NC_000008.9:g.55703309T>A | NCBI36 |
| NG_009840.1:g.17130T>A | |
| NG_009840.2:g.17130T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.4314T>A MANE Select | ENSP00000220676.1:p.Asp1438Glu | |
| ENST00000636932.1:c.787+5908T>A | ENSP00000489857.1:n.787+5908T>A | |
| ENST00000637698.1:c.787+5908T>A | ENSP00000490104.1:n.787+5908T>A | |
| ENST00000220676.1:c.4314T>A | ENSP00000220676.1:p.Asp1438Glu | |
| NM_006269.1:c.4314T>A | NP_006260.1:p.Asp1438Glu | |
| XM_017013721.1:c.4335T>A | XP_016869210.1:p.Asp1445Glu | |
| XM_017013722.1:c.4314T>A | XP_016869211.1:p.Asp1438Glu | |
| NM_001375654.1:c.787+5908T>A | NP_001362583.1:n.787+5908T>A | |
| NM_006269.2:c.4314T>A MANE Select | NP_006260.1:p.Asp1438Glu |