Linked Data
dbSNP Id:
rs1477734446
gnomAD v2:
8-94798597-T-C
gnomAD v3:
8-93786369-T-C
gnomAD v4:
8-93786369-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93786369T>C , CM000670.2:g.93786369T>C | GRCh38 |
| NC_000008.10:g.94798597T>C , CM000670.1:g.94798597T>C | GRCh37 |
| NC_000008.9:g.94867773T>C | NCBI36 |
| NG_009190.1:g.36526T>C , LRG_688:g.36526T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1412+23T>C | ENSP00000314488.4:n.1412+23T>C | |
| ENST00000409623.8:c.1367+23T>C | ENSP00000386966.4:n.1367+23T>C | |
| ENST00000452276.6:c.1412+23T>C | ENSP00000388671.2:n.1412+23T>C | |
| ENST00000453906.6:c.530+23T>C | ENSP00000403035.2:n.530+23T>C | |
| ENST00000520680.2:c.1412+23T>C | ENSP00000428785.2:n.1412+23T>C | |
| ENST00000521517.6:c.1412+23T>C | ENSP00000430740.2:n.1412+23T>C | |
| ENST00000681998.1:c.1233+23T>C | ENSP00000506773.1:n.1233+23T>C | |
| ENST00000682036.1:c.530+23T>C | ENSP00000508390.1:n.530+23T>C | |
| ENST00000682577.1:c.1185+23T>C | ENSP00000506963.1:n.1185+23T>C | |
| ENST00000682624.1:c.*986+23T>C | ENSP00000508343.1:n.*986+23T>C | |
| ENST00000682700.1:c.1412+23T>C | ENSP00000507627.1:n.1412+23T>C | |
| ENST00000682744.1:n.950+23T>C | ||
| ENST00000682804.1:n.1235+23T>C | ||
| ENST00000682837.1:c.901+23T>C | ENSP00000507920.1:n.901+23T>C | |
| ENST00000682935.1:n.3462+23T>C | ||
| ENST00000682984.1:c.1073+23T>C | ENSP00000507209.1:n.1073+23T>C | |
| ENST00000683078.1:c.1167+23T>C | ENSP00000506796.1:n.1167+23T>C | |
| ENST00000683223.1:c.1144+23T>C | ENSP00000507685.1:n.1144+23T>C | |
| ENST00000683238.1:n.2636+23T>C | ||
| ENST00000683249.1:n.3009+23T>C | ||
| ENST00000683336.1:c.1233+23T>C | ENSP00000507695.1:n.1233+23T>C | |
| ENST00000683362.1:c.1073+23T>C | ENSP00000506985.1:n.1073+23T>C | |
| ENST00000683850.1:n.1335+23T>C | ||
| ENST00000683919.1:c.1342+23T>C | ENSP00000507617.1:n.1342+23T>C | |
| ENST00000683953.1:c.1323+23T>C | ENSP00000508375.1:n.1323+23T>C | |
| ENST00000684023.1:c.1389+23T>C | ENSP00000507461.1:n.1389+23T>C | |
| ENST00000684064.1:c.1103+23T>C | ENSP00000508192.1:n.1103+23T>C | |
| ENST00000684089.1:n.2962+23T>C | ||
| ENST00000684149.1:c.*591+23T>C | ENSP00000507943.1:n.*591+23T>C | |
| ENST00000684416.1:n.1371+23T>C | ||
| ENST00000684540.1:c.1342+23T>C | ENSP00000507987.1:n.1342+23T>C | |
| ENST00000453321.8:c.1412+23T>C MANE Select | ENSP00000389998.3:n.1412+23T>C | |
| ENST00000323130.7:c.1382+23T>C | ENSP00000314488.3:n.1382+23T>C | |
| ENST00000409623.7:c.1169+23T>C | ENSP00000386966.3:n.1169+23T>C | |
| ENST00000452276.5:c.1103+23T>C | ENSP00000388671.1:n.1103+23T>C | |
| ENST00000453321.7:c.1412+23T>C | ENSP00000389998.3:n.1412+23T>C | |
| ENST00000453906.5:c.530+23T>C | ENSP00000403035.1:n.530+23T>C | |
| ENST00000474944.5:n.550+23T>C | ||
| ENST00000520680.1:c.234+23T>C | ||
| NM_001142301.1:c.1169+23T>C , LRG_688t2:c.1169+23T>C | NP_001135773.1:n.1169+23T>C | |
| NM_153704.5:c.1412+23T>C , LRG_688t1:c.1412+23T>C | NP_714915.3:n.1412+23T>C | |
| NR_024522.1:n.1483+23T>C | ||
| XM_006716686.2:c.1109+23T>C | XP_006716749.1:n.1109+23T>C | |
| XM_006716687.2:c.812+23T>C | XP_006716750.1:n.812+23T>C | |
| XM_011517363.1:c.530+23T>C | XP_011515665.1:n.530+23T>C | |
| XR_428387.1:n.1470+23T>C | ||
| XR_928360.1:n.1470+23T>C | ||
| XR_928361.1:n.1470+23T>C | ||
| XR_928362.1:n.1470+23T>C | ||
| XM_006716686.4:c.1109+23T>C | XP_006716749.1:n.1109+23T>C | |
| XM_011517363.3:c.530+23T>C | XP_011515665.1:n.530+23T>C | |
| XM_024447326.1:c.758+23T>C | XP_024303094.1:n.758+23T>C | |
| XR_001745619.2:n.1453+23T>C | ||
| XR_428387.2:n.1453+23T>C | ||
| XR_928360.3:n.1453+23T>C | ||
| XR_928362.3:n.1453+23T>C | ||
| NM_153704.6:c.1412+23T>C MANE Select | NP_714915.3:n.1412+23T>C | |
| NR_024522.2:n.1433+23T>C |