Linked Data
ClinVar Variation Id:
3435
dbSNP Id:
rs121907932
ExAC:
22:50304114 C / T
gnomAD v2:
22-50304114-C-T
gnomAD v3:
22-49910466-C-T
gnomAD v4:
22-49910466-C-T
COSMIC:
COSM4104968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49910466C>T , CM000684.2:g.49910466C>T | GRCh38 |
| NC_000022.10:g.50304114C>T , CM000684.1:g.50304114C>T | GRCh37 |
| NC_000022.9:g.48690118C>T | NCBI36 |
| NG_008927.1:g.12993G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330817.11:c.437G>A MANE Select | ENSP00000333813.5:p.Arg146Gln | |
| ENST00000330817.10:c.437G>A | ENSP00000333813.5:p.Arg146Gln | |
| NM_024105.3:c.437G>A | NP_077010.1:p.Arg146Gln | |
| XM_011530369.1:c.437G>A | XP_011528671.1:p.Arg146Gln | |
| XM_011530370.1:c.437G>A | XP_011528672.1:p.Arg146Gln | |
| XM_011530371.1:c.437G>A | XP_011528673.1:p.Arg146Gln | |
| XM_011530371.2:c.437G>A | XP_011528673.1:p.Arg146Gln | |
| XM_017028936.1:c.437G>A | XP_016884425.1:p.Arg146Gln | |
| XM_017028937.1:c.437G>A | XP_016884426.1:p.Arg146Gln | |
| NM_024105.4:c.437G>A MANE Select | NP_077010.1:p.Arg146Gln |