Linked Data
ClinVar Variation Id:
499302
dbSNP Id:
rs746957769
ExAC:
4:52895991 T / C
gnomAD v2:
4-52895991-T-C
gnomAD v3:
4-52029825-T-C
gnomAD v4:
4-52029825-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029825T>C , CM000666.2:g.52029825T>C | GRCh38 |
| NC_000004.11:g.52895991T>C , CM000666.1:g.52895991T>C | GRCh37 |
| NC_000004.10:g.52590748T>C | NCBI36 |
| NG_008891.1:g.13495A>G , LRG_204:g.13495A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.282A>G MANE Select | ENSP00000370839.6:p.Pro94= | |
| ENST00000381431.9:c.282A>G | ENSP00000370839.5:p.Pro94= | |
| ENST00000506357.5:c.365A>G | ||
| ENST00000514133.1:c.359A>G | ENSP00000425818.1:n.359A>G | |
| NM_000232.4:c.282A>G , LRG_204t1:c.282A>G | NP_000223.1:p.Pro94= | |
| XM_006714049.2:c.-16A>G | XP_006714112.1:n.-16A>G | |
| XM_011534403.1:c.72A>G | XP_011532705.1:p.Pro24= | |
| XM_011534404.1:c.-16A>G | XP_011532706.1:n.-16A>G | |
| NM_000232.5:c.282A>G MANE Select | NP_000223.1:p.Pro94= |