Linked Data
ClinVar Variation Id:
939578
ClinVar RCV Id:
RCV001209000
dbSNP Id:
rs2058823129
gnomAD v4:
17-39711933-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39711933T>C , CM000679.2:g.39711933T>C | GRCh38 |
| NC_000017.10:g.37868186T>C , CM000679.1:g.37868186T>C | GRCh37 |
| NC_000017.9:g.35121712T>C | NCBI36 |
| NG_007503.1:g.28794T>C , LRG_724:g.28794T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.907T>C MANE Select | ENSP00000269571.4:p.Tyr303His | |
| ENST00000269571.9:c.907T>C | ENSP00000269571.4:p.Tyr303His | |
| ENST00000406381.6:c.817T>C | ENSP00000385185.2:p.Tyr273His | |
| ENST00000445658.6:c.79T>C | ENSP00000404047.2:p.Tyr27His | |
| ENST00000541774.5:c.862T>C | ENSP00000446466.1:p.Tyr288His | |
| ENST00000578199.5:c.817T>C | ENSP00000462808.1:p.Tyr273His | |
| ENST00000578373.5:c.*697T>C | ENSP00000463427.1:n.*697T>C | |
| ENST00000578502.1:c.132T>C | ||
| ENST00000582648.5:c.231T>C | ENSP00000462024.1:p.Thr77= | |
| ENST00000582788.5:n.396T>C | ||
| ENST00000583038.5:n.1599T>C | ||
| ENST00000584450.5:c.907T>C | ENSP00000463714.1:p.Tyr303His | |
| ENST00000584601.5:c.817T>C | ENSP00000462438.1:p.Tyr273His | |
| ENST00000584908.5:n.919T>C | ||
| NM_001005862.2:c.817T>C , LRG_724t1:c.817T>C | NP_001005862.1:p.Tyr273His | |
| NM_001289936.1:c.862T>C , LRG_724t4:c.862T>C | NP_001276865.1:p.Tyr288His | |
| NM_001289937.1:c.907T>C | NP_001276866.1:p.Tyr303His | |
| NM_001289938.1:c.817T>C , LRG_724t3:c.817T>C | NP_001276867.1:p.Tyr273His | |
| NM_004448.3:c.907T>C , LRG_724t2:c.907T>C | NP_004439.2:p.Tyr303His | |
| NR_110535.1:n.1231T>C | ||
| XM_024450641.1:c.1045T>C | XP_024306409.1:p.Tyr349His | |
| XM_024450642.1:c.1000T>C | XP_024306410.1:p.Tyr334His | |
| XM_024450643.1:c.955T>C | XP_024306411.1:p.Tyr319His | |
| NM_001005862.3:c.817T>C | NP_001005862.1:p.Tyr273His | |
| NM_001289936.2:c.862T>C | NP_001276865.1:p.Tyr288His | |
| NM_001289937.2:c.907T>C | NP_001276866.1:p.Tyr303His | |
| NM_001289938.2:c.817T>C | NP_001276867.1:p.Tyr273His | |
| NM_001382782.1:c.817T>C | NP_001369711.1:p.Tyr273His | |
| NM_001382783.1:c.817T>C | NP_001369712.1:p.Tyr273His | |
| NM_001382784.1:c.907T>C | NP_001369713.1:p.Tyr303His | |
| NM_001382785.1:c.907T>C | NP_001369714.1:p.Tyr303His | |
| NM_001382786.1:c.907T>C | NP_001369715.1:p.Tyr303His | |
| NM_001382787.1:c.982T>C | NP_001369716.1:p.Tyr328His | |
| NM_001382788.1:c.907T>C | NP_001369717.1:p.Tyr303His | |
| NM_001382789.1:c.907T>C | NP_001369718.1:p.Tyr303His | |
| NM_001382790.1:c.907T>C | NP_001369719.1:p.Tyr303His | |
| NM_001382791.1:c.898T>C | NP_001369720.1:p.Tyr300His | |
| NM_001382792.1:c.907T>C | NP_001369721.1:p.Tyr303His | |
| NM_001382793.1:c.907T>C | NP_001369722.1:p.Tyr303His | |
| NM_001382794.1:c.907T>C | NP_001369723.1:p.Tyr303His | |
| NM_001382795.1:c.907T>C | NP_001369724.1:p.Tyr303His | |
| NM_001382796.1:c.907T>C | NP_001369725.1:p.Tyr303His | |
| NM_001382797.1:c.907T>C | NP_001369726.1:p.Tyr303His | |
| NM_001382798.1:c.907T>C | NP_001369727.1:p.Tyr303His | |
| NM_001382799.1:c.727T>C | NP_001369728.1:p.Tyr243His | |
| NM_001382800.1:c.907T>C | NP_001369729.1:p.Tyr303His | |
| NM_001382801.1:c.907T>C | NP_001369730.1:p.Tyr303His | |
| NM_001382802.1:c.649T>C | NP_001369731.1:p.Tyr217His | |
| NM_001382803.1:c.907T>C | NP_001369732.1:p.Tyr303His | |
| NM_001382804.1:c.79T>C | NP_001369733.1:p.Tyr27His | |
| NM_001382805.1:c.907T>C | NP_001369734.1:p.Tyr303His | |
| NM_001382806.1:c.907T>C | NP_001369735.1:p.Tyr303His | |
| NM_004448.4:c.907T>C MANE Select | NP_004439.2:p.Tyr303His | |
| NR_110535.2:n.1145T>C |