Linked Data
dbSNP Id:
rs551944882
ExAC:
8:94793053 A / G
gnomAD v2:
8-94793053-A-G
gnomAD v3:
8-93780825-A-G
gnomAD v4:
8-93780825-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93780825A>G , CM000670.2:g.93780825A>G | GRCh38 |
| NC_000008.10:g.94793053A>G , CM000670.1:g.94793053A>G | GRCh37 |
| NC_000008.9:g.94862229A>G | NCBI36 |
| NG_009190.1:g.30982A>G , LRG_688:g.30982A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.870-49A>G | ENSP00000314488.4:n.870-49A>G | |
| ENST00000409623.8:c.870-49A>G | ENSP00000386966.4:n.870-49A>G | |
| ENST00000452276.6:c.870-49A>G | ENSP00000388671.2:n.870-49A>G | |
| ENST00000453906.6:c.407-5398A>G | ENSP00000403035.2:n.407-5398A>G | |
| ENST00000520680.2:c.870-49A>G | ENSP00000428785.2:n.870-49A>G | |
| ENST00000521065.2:c.*587-49A>G | ENSP00000427947.2:n.*587-49A>G | |
| ENST00000521517.6:c.870-49A>G | ENSP00000430740.2:n.870-49A>G | |
| ENST00000681998.1:c.799+78A>G | ENSP00000506773.1:n.799+78A>G | |
| ENST00000682036.1:c.407-5398A>G | ENSP00000508390.1:n.407-5398A>G | |
| ENST00000682577.1:c.800-49A>G | ENSP00000506963.1:n.800-49A>G | |
| ENST00000682624.1:c.*444-49A>G | ENSP00000508343.1:n.*444-49A>G | |
| ENST00000682700.1:c.870-49A>G | ENSP00000507627.1:n.870-49A>G | |
| ENST00000682744.1:n.408-49A>G | ||
| ENST00000682804.1:n.693-49A>G | ||
| ENST00000682837.1:c.624+78A>G | ENSP00000507920.1:n.624+78A>G | |
| ENST00000682935.1:n.2430-49A>G | ||
| ENST00000682984.1:c.531-49A>G | ENSP00000507209.1:n.531-49A>G | |
| ENST00000683078.1:c.625-49A>G | ENSP00000506796.1:n.625-49A>G | |
| ENST00000683223.1:c.710+78A>G | ENSP00000507685.1:n.710+78A>G | |
| ENST00000683238.1:n.2251-49A>G | ||
| ENST00000683249.1:n.2451-33A>G | ||
| ENST00000683336.1:c.799+78A>G | ENSP00000507695.1:n.799+78A>G | |
| ENST00000683362.1:c.531-49A>G | ENSP00000506985.1:n.531-49A>G | |
| ENST00000683850.1:n.793-49A>G | ||
| ENST00000683919.1:c.800-49A>G | ENSP00000507617.1:n.800-49A>G | |
| ENST00000683953.1:c.781-49A>G | ENSP00000508375.1:n.781-49A>G | |
| ENST00000684023.1:c.1004-49A>G | ENSP00000507461.1:n.1004-49A>G | |
| ENST00000684064.1:c.561-49A>G | ENSP00000508192.1:n.561-49A>G | |
| ENST00000684089.1:n.2420-49A>G | ||
| ENST00000684149.1:c.*206-49A>G | ENSP00000507943.1:n.*206-49A>G | |
| ENST00000684416.1:n.829-49A>G | ||
| ENST00000684540.1:c.800-49A>G | ENSP00000507987.1:n.800-49A>G | |
| ENST00000453321.8:c.870-49A>G MANE Select | ENSP00000389998.3:n.870-49A>G | |
| ENST00000323130.7:c.840-49A>G | ENSP00000314488.3:n.840-49A>G | |
| ENST00000409623.7:c.627-49A>G | ENSP00000386966.3:n.627-49A>G | |
| ENST00000425545.2:n.317-49A>G | ||
| ENST00000452276.5:c.561-49A>G | ENSP00000388671.1:n.561-49A>G | |
| ENST00000453321.7:c.870-49A>G | ENSP00000389998.3:n.870-49A>G | |
| ENST00000453906.5:c.407-5398A>G | ENSP00000403035.1:n.407-5398A>G | |
| ENST00000474944.5:n.427-5398A>G | ||
| ENST00000496213.5:n.335-49A>G | ||
| NM_001142301.1:c.627-49A>G , LRG_688t2:c.627-49A>G | NP_001135773.1:n.627-49A>G | |
| NM_153704.5:c.870-49A>G , LRG_688t1:c.870-49A>G | NP_714915.3:n.870-49A>G | |
| NR_024522.1:n.941-49A>G | ||
| XM_006716686.2:c.567-49A>G | XP_006716749.1:n.567-49A>G | |
| XM_006716687.2:c.270-49A>G | XP_006716750.1:n.270-49A>G | |
| XM_011517363.1:c.407-5398A>G | XP_011515665.1:n.407-5398A>G | |
| XR_428387.1:n.928-49A>G | ||
| XR_928360.1:n.928-49A>G | ||
| XR_928361.1:n.928-49A>G | ||
| XR_928362.1:n.928-49A>G | ||
| XM_006716686.4:c.567-49A>G | XP_006716749.1:n.567-49A>G | |
| XM_011517363.3:c.407-5398A>G | XP_011515665.1:n.407-5398A>G | |
| XM_024447326.1:c.216-49A>G | XP_024303094.1:n.216-49A>G | |
| XR_001745619.2:n.911-49A>G | ||
| XR_428387.2:n.911-49A>G | ||
| XR_928360.3:n.911-49A>G | ||
| XR_928362.3:n.911-49A>G | ||
| NM_153704.6:c.870-49A>G MANE Select | NP_714915.3:n.870-49A>G | |
| NR_024522.2:n.891-49A>G |