Linked Data
ClinVar Variation Id:
1421072
ClinVar RCV Id:
RCV001923665
dbSNP Id:
rs1243519195
gnomAD v2:
9-137726839-G-A
gnomAD v3:
9-134834993-G-A
gnomAD v4:
9-134834993-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134834993G>A , CM000671.2:g.134834993G>A | GRCh38 |
| NC_000009.11:g.137726839G>A , CM000671.1:g.137726839G>A | GRCh37 |
| NC_000009.10:g.136866660G>A | NCBI36 |
| NG_008030.1:g.198188G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.5159G>A | ENSP00000360885.4:p.Gly1720Asp | |
| ENST00000371817.8:c.5159G>A MANE Select | ENSP00000360882.3:p.Gly1720Asp | |
| ENST00000371817.7:c.5159G>A | ENSP00000360882.3:p.Gly1720Asp | |
| ENST00000371820.3:c.417G>A | ||
| ENST00000618395.4:c.5159G>A | ENSP00000481360.1:p.Gly1720Asp | |
| NM_000093.4:c.5159G>A | NP_000084.3:p.Gly1720Asp | |
| NM_001278074.1:c.5159G>A | NP_001265003.1:p.Gly1720Asp | |
| NR_103451.2:n.71-14784C>T | ||
| XR_929712.1:n.5843G>A | ||
| XR_929713.1:n.5711G>A | ||
| NM_000093.5:c.5159G>A MANE Select | NP_000084.3:p.Gly1720Asp |