Linked Data
ClinVar Variation Id:
1375
dbSNP Id:
rs758948621
ExAC:
8:94809557 A / C
gnomAD v2:
8-94809557-A-C
gnomAD v4:
8-93797329-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93797329A>C , CM000670.2:g.93797329A>C | GRCh38 |
| NC_000008.10:g.94809557A>C , CM000670.1:g.94809557A>C | GRCh37 |
| NC_000008.9:g.94878733A>C | NCBI36 |
| NG_009190.1:g.47486A>C , LRG_688:g.47486A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1961-2A>C | ENSP00000314488.4:n.1961-2A>C | |
| ENST00000409623.8:c.1916-2A>C | ENSP00000386966.4:n.1916-2A>C | |
| ENST00000452276.6:c.1961-2A>C | ENSP00000388671.2:n.1961-2A>C | |
| ENST00000453906.6:c.1079-2A>C | ENSP00000403035.2:n.1079-2A>C | |
| ENST00000518896.2:c.252-2A>C | ENSP00000507992.1:n.252-2A>C | |
| ENST00000520680.2:c.2084-2A>C | ENSP00000428785.2:n.2084-2A>C | |
| ENST00000521517.6:c.1862-2A>C | ENSP00000430740.2:n.1862-2A>C | |
| ENST00000681998.1:c.1782-2A>C | ENSP00000506773.1:n.1782-2A>C | |
| ENST00000682036.1:c.1202-2A>C | ENSP00000508390.1:n.1202-2A>C | |
| ENST00000682577.1:c.1734-2A>C | ENSP00000506963.1:n.1734-2A>C | |
| ENST00000682624.1:c.*1535-2A>C | ENSP00000508343.1:n.*1535-2A>C | |
| ENST00000682700.1:c.1961-2A>C | ENSP00000507627.1:n.1961-2A>C | |
| ENST00000682744.1:n.1499-2A>C | ||
| ENST00000682804.1:n.1784-2A>C | ||
| ENST00000682837.1:c.1450-2A>C | ENSP00000507920.1:n.1450-2A>C | |
| ENST00000682935.1:n.4011-2A>C | ||
| ENST00000682984.1:c.1622-2A>C | ENSP00000507209.1:n.1622-2A>C | |
| ENST00000683078.1:c.1716-2A>C | ENSP00000506796.1:n.1716-2A>C | |
| ENST00000683223.1:c.1693-2A>C | ENSP00000507685.1:n.1693-2A>C | |
| ENST00000683238.1:n.3185-2A>C | ||
| ENST00000683249.1:n.3558-2A>C | ||
| ENST00000683336.1:c.1782-2A>C | ENSP00000507695.1:n.1782-2A>C | |
| ENST00000683362.1:c.1622-2A>C | ENSP00000506985.1:n.1622-2A>C | |
| ENST00000683850.1:n.1884-2A>C | ||
| ENST00000683919.1:c.1891-2A>C | ENSP00000507617.1:n.1891-2A>C | |
| ENST00000683953.1:c.1872-2A>C | ENSP00000508375.1:n.1872-2A>C | |
| ENST00000684023.1:c.1938-2A>C | ENSP00000507461.1:n.1938-2A>C | |
| ENST00000684064.1:c.1652-2A>C | ENSP00000508192.1:n.1652-2A>C | |
| ENST00000684089.1:n.3511-2A>C | ||
| ENST00000684149.1:c.*1140-2A>C | ENSP00000507943.1:n.*1140-2A>C | |
| ENST00000684343.1:c.158-2A>C | ENSP00000507591.1:n.158-2A>C | |
| ENST00000684416.1:n.1920-2A>C | ||
| ENST00000684540.1:c.1891-2A>C | ENSP00000507987.1:n.1891-2A>C | |
| ENST00000453321.8:c.1961-2A>C MANE Select | ENSP00000389998.3:n.1961-2A>C | |
| ENST00000323130.7:c.1931-2A>C | ENSP00000314488.3:n.1931-2A>C | |
| ENST00000409623.7:c.1718-2A>C | ENSP00000386966.3:n.1718-2A>C | |
| ENST00000453321.7:c.1961-2A>C | ENSP00000389998.3:n.1961-2A>C | |
| ENST00000474944.5:n.1099-2A>C | ||
| ENST00000519845.5:n.693-2A>C | ||
| ENST00000523230.5:n.496-2A>C | ||
| NM_001142301.1:c.1718-2A>C , LRG_688t2:c.1718-2A>C | NP_001135773.1:n.1718-2A>C | |
| NM_153704.5:c.1961-2A>C , LRG_688t1:c.1961-2A>C | NP_714915.3:n.1961-2A>C | |
| NR_024522.1:n.2032-2A>C | ||
| XM_006716686.2:c.1658-2A>C | XP_006716749.1:n.1658-2A>C | |
| XM_006716687.2:c.1361-2A>C | XP_006716750.1:n.1361-2A>C | |
| XM_011517363.1:c.1079-2A>C | XP_011515665.1:n.1079-2A>C | |
| XR_428387.1:n.2019-2A>C | ||
| XR_928360.1:n.2019-2A>C | ||
| XR_928361.1:n.2019-2A>C | ||
| XR_928362.1:n.2019-2A>C | ||
| XM_006716686.4:c.1658-2A>C | XP_006716749.1:n.1658-2A>C | |
| XM_011517363.3:c.1079-2A>C | XP_011515665.1:n.1079-2A>C | |
| XM_024447326.1:c.1307-2A>C | XP_024303094.1:n.1307-2A>C | |
| XR_001745619.2:n.2002-2A>C | ||
| XR_428387.2:n.2002-2A>C | ||
| XR_928360.3:n.2002-2A>C | ||
| XR_928362.3:n.2002-2A>C | ||
| NM_153704.6:c.1961-2A>C MANE Select | NP_714915.3:n.1961-2A>C | |
| NR_024522.2:n.1982-2A>C |