Linked Data
ClinVar Variation Id:
423543
ClinVar RCV Id:
RCV000479742
dbSNP Id:
rs1064796482
gnomAD v4:
9-134642193-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134642193C>G , CM000671.2:g.134642193C>G | GRCh38 |
| NC_000009.11:g.137534039C>G , CM000671.1:g.137534039C>G | GRCh37 |
| NC_000009.10:g.136673860C>G | NCBI36 |
| NG_008030.1:g.5388C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.6C>G | ENSP00000360885.4:p.Asp2Glu | |
| ENST00000371817.8:c.6C>G MANE Select | ENSP00000360882.3:p.Asp2Glu | |
| ENST00000371817.7:c.6C>G | ENSP00000360882.3:p.Asp2Glu | |
| ENST00000618395.4:c.6C>G | ENSP00000481360.1:p.Asp2Glu | |
| NM_000093.4:c.6C>G | NP_000084.3:p.Asp2Glu | |
| NM_001278074.1:c.6C>G | NP_001265003.1:p.Asp2Glu | |
| XR_929712.1:n.408C>G | ||
| XR_929713.1:n.408C>G | ||
| XM_017014266.2:c.6C>G | XP_016869755.1:p.Asp2Glu | |
| XR_001746183.1:n.404C>G | ||
| NM_000093.5:c.6C>G MANE Select | NP_000084.3:p.Asp2Glu |