Linked Data
dbSNP Id:
rs532871465
ExAC:
10:96053297 A / C
gnomAD v2:
10-96053297-A-C
gnomAD v3:
10-94293540-A-C
gnomAD v4:
10-94293540-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94293540A>C , CM000672.2:g.94293540A>C | GRCh38 |
| NC_000010.10:g.96053297A>C , CM000672.1:g.96053297A>C | GRCh37 |
| NC_000010.9:g.96043287A>C | NCBI36 |
| NG_015799.1:g.304552A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371375.2:c.4144A>C | ENSP00000360426.1:p.Arg1382= | |
| ENST00000685253.1:c.*1611A>C | ENSP00000509405.1:n.*1611A>C | |
| ENST00000685889.1:n.1803A>C | ||
| ENST00000686807.1:n.487A>C | ||
| ENST00000686954.1:c.*352A>C | ENSP00000508416.1:n.*352A>C | |
| ENST00000688810.1:c.4096A>C | ENSP00000509140.1:p.Arg1366= | |
| ENST00000689233.1:n.9276A>C | ||
| ENST00000690340.1:n.2741A>C | ||
| ENST00000692286.1:c.5036-4839A>C | ENSP00000509490.1:n.5036-4839A>C | |
| ENST00000692396.1:c.5020A>C | ENSP00000508605.1:p.Arg1674= | |
| ENST00000371380.8:c.5068A>C MANE Select | ENSP00000360431.2:p.Arg1690= | |
| ENST00000371385.8:c.4042A>C | ENSP00000360438.4:p.Arg1348= | |
| ENST00000674738.1:c.3623A>C | ||
| ENST00000674827.1:c.3184A>C | ENSP00000502523.1:p.Arg1062= | |
| ENST00000675218.1:c.4144A>C | ENSP00000501910.1:p.Arg1382= | |
| ENST00000675487.1:c.*1001A>C | ENSP00000502340.1:n.*1001A>C | |
| ENST00000675718.1:c.4337A>C | ||
| ENST00000676102.1:c.3913A>C | ENSP00000502811.1:p.Arg1305= | |
| ENST00000260766.7:c.5068A>C | ENSP00000260766.3:p.Arg1690= | |
| ENST00000371375.1:c.4144A>C | ENSP00000360426.1:p.Arg1382= | |
| ENST00000371380.7:c.5068A>C | ENSP00000360431.2:p.Arg1690= | |
| ENST00000371385.7:c.4144A>C | ENSP00000360438.3:p.Arg1382= | |
| NM_001165979.2:c.4144A>C | NP_001159451.1:p.Arg1382= | |
| NM_001288989.1:c.5020A>C | NP_001275918.1:p.Arg1674= | |
| NM_016341.3:c.5068A>C | NP_057425.3:p.Arg1690= | |
| XM_006717885.2:c.5110A>C | XP_006717948.1:p.Arg1704= | |
| XM_006717886.2:c.5110A>C | XP_006717949.1:p.Arg1704= | |
| XM_006717888.2:c.5107A>C | XP_006717951.1:p.Arg1703= | |
| XM_006717889.2:c.5062A>C | XP_006717952.1:p.Arg1688= | |
| XM_006717890.1:c.4186A>C | XP_006717953.1:p.Arg1396= | |
| XM_011539849.1:c.5110A>C | XP_011538151.1:p.Arg1704= | |
| XM_011539850.1:c.3955A>C | XP_011538152.1:p.Arg1319= | |
| XM_006717885.4:c.5110A>C | XP_006717948.1:p.Arg1704= | |
| XM_006717888.4:c.5107A>C | XP_006717951.1:p.Arg1703= | |
| XM_006717889.4:c.5062A>C | XP_006717952.1:p.Arg1688= | |
| XM_006717890.3:c.4186A>C | XP_006717953.1:p.Arg1396= | |
| XM_011539849.3:c.5110A>C | XP_011538151.1:p.Arg1704= | |
| XM_011539850.3:c.3955A>C | XP_011538152.1:p.Arg1319= | |
| XM_017016310.2:c.5110A>C | XP_016871799.1:p.Arg1704= | |
| XM_017016311.2:c.5110A>C | XP_016871800.1:p.Arg1704= | |
| XM_017016312.2:c.4096A>C | XP_016871801.1:p.Arg1366= | |
| NM_001288989.2:c.5020A>C | NP_001275918.1:p.Arg1674= | |
| NM_016341.4:c.5068A>C MANE Select | NP_057425.3:p.Arg1690= |