Linked Data
ClinVar Variation Id:
2547484
ClinVar RCV Id:
RCV004315270
dbSNP Id:
rs1273827359
gnomAD v3:
16-28605894-T-C
gnomAD v4:
16-28605894-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28605894T>C , CM000678.2:g.28605894T>C | GRCh38 |
| NC_000016.9:g.28617215T>C , CM000678.1:g.28617215T>C | GRCh37 |
| NC_000016.8:g.28524716T>C | NCBI36 |
| NG_028128.1:g.22652A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314752.12:c.815A>G MANE Select | ENSP00000321988.7:p.Gln272Arg | |
| ENST00000395607.6:c.*1451+2814A>G | ENSP00000378971.2:n.*1451+2814A>G | |
| ENST00000395609.6:n.2448A>G | ||
| ENST00000677940.1:c.139-12326A>G | ENSP00000503077.1:n.139-12326A>G | |
| ENST00000679262.1:c.*118+14169A>G | ENSP00000502863.1:n.*118+14169A>G | |
| ENST00000314752.11:c.815A>G | ENSP00000321988.7:p.Gln272Arg | |
| ENST00000350842.8:c.581A>G | ENSP00000329399.4:p.Gln194Arg | |
| ENST00000395607.5:c.815A>G | ENSP00000378971.1:p.Gln272Arg | |
| ENST00000395609.5:c.815A>G | ENSP00000378972.1:p.Gln272Arg | |
| ENST00000562058.5:c.*1047A>G | ENSP00000456215.1:n.*1047A>G | |
| ENST00000563493.1:c.*699A>G | ENSP00000457083.1:n.*699A>G | |
| ENST00000564818.5:c.*1120A>G | ENSP00000454388.1:n.*1120A>G | |
| ENST00000566189.5:c.815A>G | ENSP00000456459.1:p.Gln272Arg | |
| ENST00000567998.5:n.7645A>G | ||
| ENST00000569554.5:c.815A>G | ENSP00000457912.1:p.Gln272Arg | |
| NM_001055.3:c.815A>G | NP_001046.2:p.Gln272Arg | |
| NM_177529.2:c.815A>G | NP_803565.1:p.Gln272Arg | |
| NM_177530.2:c.815A>G | NP_803566.1:p.Gln272Arg | |
| NM_177534.2:c.815A>G | NP_803878.1:p.Gln272Arg | |
| NM_177536.3:c.581A>G | NP_803880.1:p.Gln194Arg | |
| XM_017023604.1:c.833A>G | XP_016879093.1:p.Gln278Arg | |
| XM_017023605.1:c.833A>G | XP_016879094.1:p.Gln278Arg | |
| XM_017023607.2:c.1088A>G | XP_016879096.1:p.Gln363Arg | |
| XM_017023608.1:c.833A>G | XP_016879097.1:p.Gln278Arg | |
| XM_017023609.1:c.833A>G | XP_016879098.1:p.Gln278Arg | |
| XM_017023610.1:c.833A>G | XP_016879099.1:p.Gln278Arg | |
| XM_017023611.2:c.815A>G | XP_016879100.1:p.Gln272Arg | |
| XM_017023612.2:c.815A>G | XP_016879101.1:p.Gln272Arg | |
| XM_017023613.2:c.815A>G | XP_016879102.1:p.Gln272Arg | |
| XM_024450408.1:c.1091A>G | XP_024306176.1:p.Gln364Arg | |
| XM_024450409.1:c.815A>G | XP_024306177.1:p.Gln272Arg | |
| XM_024450410.1:c.815A>G | XP_024306178.1:p.Gln272Arg | |
| XM_024450411.1:c.815A>G | XP_024306179.1:p.Gln272Arg | |
| XR_001751973.1:n.1056A>G | ||
| NM_177530.3:c.815A>G | NP_803566.1:p.Gln272Arg | |
| NM_177534.3:c.815A>G | NP_803878.1:p.Gln272Arg | |
| NM_177536.4:c.581A>G | NP_803880.1:p.Gln194Arg | |
| NM_001055.4:c.815A>G MANE Select | NP_001046.2:p.Gln272Arg | |
| NM_001394421.1:c.815A>G | NP_001381350.1:p.Gln272Arg | |
| NM_001394422.1:c.815A>G | NP_001381351.1:p.Gln272Arg | |
| NM_001394423.1:c.815A>G | NP_001381352.1:p.Gln272Arg | |
| NM_001394424.1:c.815A>G | NP_001381353.1:p.Gln272Arg | |
| NM_001394425.1:c.815A>G | NP_001381354.1:p.Gln272Arg | |
| NM_177529.3:c.815A>G | NP_803565.1:p.Gln272Arg | |
| NM_177530.4:c.815A>G | NP_803566.1:p.Gln272Arg | |
| NM_177534.4:c.815A>G | NP_803878.1:p.Gln272Arg | |
| NM_177536.5:c.512A>G | NP_803880.2:p.Gln171Arg |