Linked Data
ClinVar Variation Id:
363920
dbSNP Id:
rs774288177
ExAC:
8:94800105 C / T
gnomAD v2:
8-94800105-C-T
gnomAD v3:
8-93787877-C-T
gnomAD v4:
8-93787877-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93787877C>T , CM000670.2:g.93787877C>T | GRCh38 |
| NC_000008.10:g.94800105C>T , CM000670.1:g.94800105C>T | GRCh37 |
| NC_000008.9:g.94869281C>T | NCBI36 |
| NG_009190.1:g.38034C>T , LRG_688:g.38034C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1446C>T | ENSP00000314488.4:p.Asn482= | |
| ENST00000409623.8:c.1401C>T | ENSP00000386966.4:p.Asn467= | |
| ENST00000452276.6:c.1446C>T | ENSP00000388671.2:p.Asn482= | |
| ENST00000453906.6:c.564C>T | ENSP00000403035.2:p.Asn188= | |
| ENST00000520680.2:c.1446C>T | ENSP00000428785.2:p.Asn482= | |
| ENST00000521517.6:c.1446C>T | ENSP00000430740.2:p.Asn482= | |
| ENST00000681998.1:c.1267C>T | ENSP00000506773.1:n.1267C>T | |
| ENST00000682036.1:c.564C>T | ENSP00000508390.1:p.Asn188= | |
| ENST00000682577.1:c.1219C>T | ENSP00000506963.1:n.1219C>T | |
| ENST00000682624.1:c.*1020C>T | ENSP00000508343.1:n.*1020C>T | |
| ENST00000682700.1:c.1446C>T | ENSP00000507627.1:p.Asn482= | |
| ENST00000682744.1:n.984C>T | ||
| ENST00000682804.1:n.1269C>T | ||
| ENST00000682837.1:c.935C>T | ENSP00000507920.1:n.935C>T | |
| ENST00000682935.1:n.3496C>T | ||
| ENST00000682984.1:c.1107C>T | ENSP00000507209.1:p.Asn369= | |
| ENST00000683078.1:c.1201C>T | ENSP00000506796.1:n.1201C>T | |
| ENST00000683223.1:c.1178C>T | ENSP00000507685.1:n.1178C>T | |
| ENST00000683238.1:n.2670C>T | ||
| ENST00000683249.1:n.3043C>T | ||
| ENST00000683336.1:c.1267C>T | ENSP00000507695.1:n.1267C>T | |
| ENST00000683362.1:c.1107C>T | ENSP00000506985.1:p.Asn369= | |
| ENST00000683850.1:n.1369C>T | ||
| ENST00000683919.1:c.1376C>T | ENSP00000507617.1:n.1376C>T | |
| ENST00000683953.1:c.1357C>T | ENSP00000508375.1:n.1357C>T | |
| ENST00000684023.1:c.1423C>T | ENSP00000507461.1:n.1423C>T | |
| ENST00000684064.1:c.1137C>T | ENSP00000508192.1:p.Asn379= | |
| ENST00000684089.1:n.2996C>T | ||
| ENST00000684149.1:c.*625C>T | ENSP00000507943.1:n.*625C>T | |
| ENST00000684416.1:n.1405C>T | ||
| ENST00000684540.1:c.1376C>T | ENSP00000507987.1:n.1376C>T | |
| ENST00000453321.8:c.1446C>T MANE Select | ENSP00000389998.3:p.Asn482= | |
| ENST00000323130.7:c.1416C>T | ENSP00000314488.3:p.Asn472= | |
| ENST00000409623.7:c.1203C>T | ENSP00000386966.3:p.Asn401= | |
| ENST00000452276.5:c.1137C>T | ENSP00000388671.1:p.Asn379= | |
| ENST00000453321.7:c.1446C>T | ENSP00000389998.3:p.Asn482= | |
| ENST00000474944.5:n.584C>T | ||
| ENST00000520680.1:c.268C>T | ||
| NM_001142301.1:c.1203C>T , LRG_688t2:c.1203C>T | NP_001135773.1:p.Asn401= | |
| NM_153704.5:c.1446C>T , LRG_688t1:c.1446C>T | NP_714915.3:p.Asn482= | |
| NR_024522.1:n.1517C>T | ||
| XM_006716686.2:c.1143C>T | XP_006716749.1:p.Asn381= | |
| XM_006716687.2:c.846C>T | XP_006716750.1:p.Asn282= | |
| XM_011517363.1:c.564C>T | XP_011515665.1:p.Asn188= | |
| XR_428387.1:n.1504C>T | ||
| XR_928360.1:n.1504C>T | ||
| XR_928361.1:n.1504C>T | ||
| XR_928362.1:n.1504C>T | ||
| XM_006716686.4:c.1143C>T | XP_006716749.1:p.Asn381= | |
| XM_011517363.3:c.564C>T | XP_011515665.1:p.Asn188= | |
| XM_024447326.1:c.792C>T | XP_024303094.1:p.Asn264= | |
| XR_001745619.2:n.1487C>T | ||
| XR_428387.2:n.1487C>T | ||
| XR_928360.3:n.1487C>T | ||
| XR_928362.3:n.1487C>T | ||
| NM_153704.6:c.1446C>T MANE Select | NP_714915.3:p.Asn482= | |
| NR_024522.2:n.1467C>T |