Linked Data
ClinVar Variation Id:
775829
dbSNP Id:
rs111434821
ExAC:
2:230636352 C / A
gnomAD v2:
2-230636352-C-A
gnomAD v3:
2-229771636-C-A
gnomAD v4:
2-229771636-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.229771636C>A , CM000664.2:g.229771636C>A | GRCh38 |
| NC_000002.11:g.230636352C>A , CM000664.1:g.230636352C>A | GRCh37 |
| NC_000002.10:g.230344596C>A | NCBI36 |
| NG_053017.1:g.156599G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430954.6:c.5518-4G>T | ENSP00000389827.2:n.5518-4G>T | |
| ENST00000453485.2:c.5527-4G>T | ENSP00000400967.2:n.5527-4G>T | |
| ENST00000704577.1:c.5695-4G>T | ENSP00000515952.1:n.5695-4G>T | |
| ENST00000704578.1:c.5554-4G>T | ENSP00000515953.1:n.5554-4G>T | |
| ENST00000704579.1:c.*3859-4G>T | ENSP00000515954.1:n.*3859-4G>T | |
| ENST00000704580.1:c.5569-4G>T | ENSP00000515955.1:n.5569-4G>T | |
| ENST00000704581.1:c.5683-4G>T | ENSP00000515956.1:n.5683-4G>T | |
| ENST00000704582.1:c.1349-4G>T | ||
| ENST00000704583.1:c.*3179-4G>T | ENSP00000515958.1:n.*3179-4G>T | |
| ENST00000704584.1:c.5587-4G>T | ||
| ENST00000704585.1:c.5473-4G>T | ENSP00000515960.1:n.5473-4G>T | |
| ENST00000675423.1:c.5695-4G>T | ENSP00000502768.1:n.5695-4G>T | |
| ENST00000675453.1:c.5698-4G>T | ENSP00000502271.1:n.5698-4G>T | |
| ENST00000675903.1:c.5695-4G>T MANE Select | ENSP00000502713.1:n.5695-4G>T | |
| ENST00000283943.9:c.5470-4G>T | ENSP00000283943.4:n.5470-4G>T | |
| ENST00000389044.8:c.5614-4G>T | ENSP00000373696.4:n.5614-4G>T | |
| ENST00000389045.7:c.4660-4G>T | ENSP00000373697.3:n.4660-4G>T | |
| ENST00000418123.1:c.364-2311G>T | ENSP00000408330.1:n.364-2311G>T | |
| NM_001284214.1:c.5614-4G>T | NP_001271143.1:n.5614-4G>T | |
| NM_001284215.1:c.5569-4G>T | NP_001271144.1:n.5569-4G>T | |
| NM_001284216.1:c.4660-4G>T | NP_001271145.1:n.4660-4G>T | |
| NM_004238.2:c.5470-4G>T | NP_004229.1:n.5470-4G>T | |
| XM_005246954.3:c.5698-4G>T | XP_005247011.1:n.5698-4G>T | |
| XM_005246955.3:c.5698-4G>T | XP_005247012.1:n.5698-4G>T | |
| XM_005246956.3:c.5695-4G>T | XP_005247013.1:n.5695-4G>T | |
| XM_005246957.3:c.5683-4G>T | XP_005247014.1:n.5683-4G>T | |
| XM_005246958.3:c.5617-4G>T | XP_005247015.1:n.5617-4G>T | |
| XM_005246960.3:c.5611-4G>T | XP_005247017.1:n.5611-4G>T | |
| XM_005246961.2:c.5572-4G>T | XP_005247018.1:n.5572-4G>T | |
| XM_005246962.3:c.5569-4G>T | XP_005247019.1:n.5569-4G>T | |
| XM_005246963.3:c.5533-4G>T | XP_005247020.1:n.5533-4G>T | |
| XM_006712852.2:c.5572-4G>T | XP_006712915.1:n.5572-4G>T | |
| XM_006712853.2:c.5488-4G>T | XP_006712916.1:n.5488-4G>T | |
| XM_011512180.1:c.5698-4G>T | XP_011510482.1:n.5698-4G>T | |
| XM_011512181.1:c.5698-4G>T | XP_011510483.1:n.5698-4G>T | |
| XM_011512182.1:c.5698-2311G>T | XP_011510484.1:n.5698-2311G>T | |
| XM_011512183.1:c.5572-4G>T | XP_011510485.1:n.5572-4G>T | |
| NM_001284215.2:c.5569-4G>T | NP_001271144.1:n.5569-4G>T | |
| NM_001348315.1:c.5614-4G>T | NP_001335244.1:n.5614-4G>T | |
| NM_001348316.1:c.5569-4G>T | NP_001335245.1:n.5569-4G>T | |
| NM_001348317.1:c.5554-4G>T | NP_001335246.1:n.5554-4G>T | |
| NM_001348318.1:c.5554-4G>T | NP_001335247.1:n.5554-4G>T | |
| NM_001348319.1:c.5680-4G>T | NP_001335248.1:n.5680-4G>T | |
| NM_001348320.1:c.5680-4G>T | NP_001335249.1:n.5680-4G>T | |
| NM_001348321.1:c.5683-4G>T | NP_001335250.1:n.5683-4G>T | |
| NM_001348322.1:c.5695-4G>T | NP_001335251.1:n.5695-4G>T | |
| NM_001348323.1:c.5695-4G>T | NP_001335252.1:n.5695-4G>T | |
| NM_001348324.1:c.5695-4G>T | NP_001335253.1:n.5695-4G>T | |
| NM_001348325.1:c.5695-4G>T | NP_001335254.1:n.5695-4G>T | |
| NM_001348326.1:c.5695-4G>T | NP_001335255.1:n.5695-4G>T | |
| NM_001348327.1:c.5695-4G>T | NP_001335256.1:n.5695-4G>T | |
| NM_001348328.1:c.5698-4G>T | NP_001335257.1:n.5698-4G>T | |
| NM_001348329.1:c.5698-4G>T | NP_001335258.1:n.5698-4G>T | |
| NM_001348330.1:c.5698-4G>T | NP_001335259.1:n.5698-4G>T | |
| NM_001348331.1:c.5473-4G>T | NP_001335260.1:n.5473-4G>T | |
| NM_001348332.1:c.5593-4G>T | NP_001335261.1:n.5593-4G>T | |
| NM_001348333.1:c.5617-4G>T | NP_001335262.1:n.5617-4G>T | |
| XM_005246961.4:c.5572-4G>T | XP_005247018.1:n.5572-4G>T | |
| XM_017005283.2:c.5599-4G>T | XP_016860772.1:n.5599-4G>T | |
| XM_017005289.2:c.5530-4G>T | XP_016860778.1:n.5530-4G>T | |
| XM_017005290.2:c.5527-4G>T | XP_016860779.1:n.5527-4G>T | |
| XM_024453223.1:c.5770-4G>T | XP_024308991.1:n.5770-4G>T | |
| XM_024453224.1:c.5770-4G>T | XP_024308992.1:n.5770-4G>T | |
| XM_024453225.1:c.5770-4G>T | XP_024308993.1:n.5770-4G>T | |
| XM_024453226.1:c.5770-4G>T | XP_024308994.1:n.5770-4G>T | |
| XM_024453227.1:c.5770-4G>T | XP_024308995.1:n.5770-4G>T | |
| XM_024453228.1:c.5770-4G>T | XP_024308996.1:n.5770-4G>T | |
| XM_024453229.1:c.5767-4G>T | XP_024308997.1:n.5767-4G>T | |
| XM_024453230.1:c.5767-4G>T | XP_024308998.1:n.5767-4G>T | |
| XM_024453231.1:c.5689-4G>T | XP_024308999.1:n.5689-4G>T | |
| XM_024453232.1:c.5686-4G>T | XP_024309000.1:n.5686-4G>T | |
| XM_024453233.1:c.5683-4G>T | XP_024309001.1:n.5683-4G>T | |
| XM_024453234.1:c.5683-4G>T | XP_024309002.1:n.5683-4G>T | |
| XM_024453235.1:c.5683-4G>T | XP_024309003.1:n.5683-4G>T | |
| XM_024453236.1:c.5644-4G>T | XP_024309004.1:n.5644-4G>T | |
| XM_024453237.1:c.5644-4G>T | XP_024309005.1:n.5644-4G>T | |
| XM_024453238.1:c.5644-4G>T | XP_024309006.1:n.5644-4G>T | |
| XM_024453239.1:c.5644-4G>T | XP_024309007.1:n.5644-4G>T | |
| XM_024453240.1:c.5644-4G>T | XP_024309008.1:n.5644-4G>T | |
| XM_024453241.1:c.5641-4G>T | XP_024309009.1:n.5641-4G>T | |
| XM_024453242.1:c.5557-4G>T | XP_024309010.1:n.5557-4G>T | |
| XM_024453243.1:c.5488-4G>T | XP_024309011.1:n.5488-4G>T | |
| NM_001284214.2:c.5614-4G>T | NP_001271143.1:n.5614-4G>T | |
| NM_001284216.2:c.4660-4G>T | NP_001271145.1:n.4660-4G>T | |
| NM_001348315.2:c.5614-4G>T | NP_001335244.1:n.5614-4G>T | |
| NM_001348316.2:c.5569-4G>T | NP_001335245.1:n.5569-4G>T | |
| NM_001348318.2:c.5554-4G>T | NP_001335247.1:n.5554-4G>T | |
| NM_001348320.2:c.5680-4G>T | NP_001335249.1:n.5680-4G>T | |
| NM_001348323.2:c.5695-4G>T | NP_001335252.1:n.5695-4G>T | |
| NM_001348324.2:c.5695-4G>T | NP_001335253.1:n.5695-4G>T | |
| NM_001348325.2:c.5695-4G>T | NP_001335254.1:n.5695-4G>T | |
| NM_001348326.2:c.5695-4G>T | NP_001335255.1:n.5695-4G>T | |
| NM_001348327.2:c.5695-4G>T | NP_001335256.1:n.5695-4G>T | |
| NM_001348329.2:c.5698-4G>T | NP_001335258.1:n.5698-4G>T | |
| NM_001348330.2:c.5698-4G>T | NP_001335259.1:n.5698-4G>T | |
| NM_004238.3:c.5470-4G>T | NP_004229.1:n.5470-4G>T | |
| NM_001348323.3:c.5695-4G>T MANE Select | NP_001335252.1:n.5695-4G>T |