Linked Data
ClinVar Variation Id:
301729
ClinVar RCV Id:
RCV000263203
dbSNP Id:
rs752359550
ExAC:
10:96058143 T / C
gnomAD v2:
10-96058143-T-C
gnomAD v3:
10-94298386-T-C
gnomAD v4:
10-94298386-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298386T>C , CM000672.2:g.94298386T>C | GRCh38 |
| NC_000010.10:g.96058143T>C , CM000672.1:g.96058143T>C | GRCh37 |
| NC_000010.9:g.96048133T>C | NCBI36 |
| NG_015799.1:g.309398T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371375.2:c.4251T>C | ENSP00000360426.1:p.Cys1417= | |
| ENST00000685253.1:c.*1718T>C | ENSP00000509405.1:n.*1718T>C | |
| ENST00000685889.1:n.1910T>C | ||
| ENST00000686807.1:n.594T>C | ||
| ENST00000686954.1:c.*459T>C | ENSP00000508416.1:n.*459T>C | |
| ENST00000688810.1:c.4203T>C | ENSP00000509140.1:p.Cys1401= | |
| ENST00000689233.1:n.9383T>C | ||
| ENST00000690340.1:n.2848T>C | ||
| ENST00000692286.1:c.5043T>C | ENSP00000509490.1:p.Cys1681= | |
| ENST00000692396.1:c.5127T>C | ENSP00000508605.1:p.Cys1709= | |
| ENST00000371380.8:c.5175T>C MANE Select | ENSP00000360431.2:p.Cys1725= | |
| ENST00000371385.8:c.4149T>C | ENSP00000360438.4:p.Cys1383= | |
| ENST00000674738.1:c.3730T>C | ||
| ENST00000674827.1:c.3291T>C | ENSP00000502523.1:p.Cys1097= | |
| ENST00000675218.1:c.4251T>C | ENSP00000501910.1:p.Cys1417= | |
| ENST00000675487.1:c.*1108T>C | ENSP00000502340.1:n.*1108T>C | |
| ENST00000675718.1:c.4444T>C | ||
| ENST00000676102.1:c.4020T>C | ENSP00000502811.1:p.Cys1340= | |
| ENST00000260766.7:c.5175T>C | ENSP00000260766.3:p.Cys1725= | |
| ENST00000371375.1:c.4251T>C | ENSP00000360426.1:p.Cys1417= | |
| ENST00000371380.7:c.5175T>C | ENSP00000360431.2:p.Cys1725= | |
| ENST00000371385.7:c.4251T>C | ENSP00000360438.3:p.Cys1417= | |
| NM_001165979.2:c.4251T>C | NP_001159451.1:p.Cys1417= | |
| NM_001288989.1:c.5127T>C | NP_001275918.1:p.Cys1709= | |
| NM_016341.3:c.5175T>C | NP_057425.3:p.Cys1725= | |
| XM_006717885.2:c.5217T>C | XP_006717948.1:p.Cys1739= | |
| XM_006717886.2:c.5217T>C | XP_006717949.1:p.Cys1739= | |
| XM_006717888.2:c.5214T>C | XP_006717951.1:p.Cys1738= | |
| XM_006717889.2:c.5169T>C | XP_006717952.1:p.Cys1723= | |
| XM_006717890.1:c.4293T>C | XP_006717953.1:p.Cys1431= | |
| XM_011539849.1:c.5217T>C | XP_011538151.1:p.Cys1739= | |
| XM_011539850.1:c.4062T>C | XP_011538152.1:p.Cys1354= | |
| XM_006717885.4:c.5217T>C | XP_006717948.1:p.Cys1739= | |
| XM_006717888.4:c.5214T>C | XP_006717951.1:p.Cys1738= | |
| XM_006717889.4:c.5169T>C | XP_006717952.1:p.Cys1723= | |
| XM_006717890.3:c.4293T>C | XP_006717953.1:p.Cys1431= | |
| XM_011539849.3:c.5217T>C | XP_011538151.1:p.Cys1739= | |
| XM_011539850.3:c.4062T>C | XP_011538152.1:p.Cys1354= | |
| XM_017016310.2:c.5217T>C | XP_016871799.1:p.Cys1739= | |
| XM_017016311.2:c.5217T>C | XP_016871800.1:p.Cys1739= | |
| XM_017016312.2:c.4203T>C | XP_016871801.1:p.Cys1401= | |
| NM_001288989.2:c.5127T>C | NP_001275918.1:p.Cys1709= | |
| NM_016341.4:c.5175T>C MANE Select | NP_057425.3:p.Cys1725= |