Linked Data
ClinVar Variation Id:
459674
dbSNP Id:
rs759580799
ExAC:
9:137701060 G / A
gnomAD v2:
9-137701060-G-A
gnomAD v3:
9-134809214-G-A
gnomAD v4:
9-134809214-G-A
COSMIC:
COSM1106599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134809214G>A , CM000671.2:g.134809214G>A | GRCh38 |
| NC_000009.11:g.137701060G>A , CM000671.1:g.137701060G>A | GRCh37 |
| NC_000009.10:g.136840881G>A | NCBI36 |
| NG_008030.1:g.172409G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.3398G>A | ENSP00000360885.4:p.Arg1133Gln | |
| ENST00000371817.8:c.3398G>A MANE Select | ENSP00000360882.3:p.Arg1133Gln | |
| ENST00000371817.7:c.3398G>A | ENSP00000360882.3:p.Arg1133Gln | |
| ENST00000463925.1:n.254G>A | ||
| ENST00000618395.4:c.3398G>A | ENSP00000481360.1:p.Arg1133Gln | |
| NM_000093.4:c.3398G>A | NP_000084.3:p.Arg1133Gln | |
| NM_001278074.1:c.3398G>A | NP_001265003.1:p.Arg1133Gln | |
| XR_929712.1:n.3800G>A | ||
| XR_929713.1:n.3800G>A | ||
| XM_017014266.2:c.3398G>A | XP_016869755.1:p.Arg1133Gln | |
| XR_001746183.1:n.3796G>A | ||
| NM_000093.5:c.3398G>A MANE Select | NP_000084.3:p.Arg1133Gln |