Linked Data
ClinVar Variation Id:
446138
ClinVar RCV Id:
RCV000515140
dbSNP Id:
rs1553602821
gnomAD v4:
2-229785842-C-T
COSMIC:
COSM1306517
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.229785842C>T , CM000664.2:g.229785842C>T | GRCh38 |
| NC_000002.11:g.230650558C>T , CM000664.1:g.230650558C>T | GRCh37 |
| NC_000002.10:g.230358802C>T | NCBI36 |
| NG_053017.1:g.142393G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430954.6:c.4832G>A | ENSP00000389827.2:p.Arg1611Gln | |
| ENST00000453485.2:c.4841G>A | ENSP00000400967.2:p.Arg1614Gln | |
| ENST00000704577.1:c.5009G>A | ENSP00000515952.1:p.Arg1670Gln | |
| ENST00000704578.1:c.4868G>A | ENSP00000515953.1:p.Arg1623Gln | |
| ENST00000704579.1:c.*3173G>A | ENSP00000515954.1:n.*3173G>A | |
| ENST00000704580.1:c.4883G>A | ENSP00000515955.1:p.Arg1628Gln | |
| ENST00000704581.1:c.4997G>A | ENSP00000515956.1:p.Arg1666Gln | |
| ENST00000704582.1:c.663G>A | ||
| ENST00000704583.1:c.*2493G>A | ENSP00000515958.1:n.*2493G>A | |
| ENST00000704584.1:c.4732G>A | ||
| ENST00000704585.1:c.4787G>A | ENSP00000515960.1:p.Arg1596Gln | |
| ENST00000675423.1:c.5009G>A | ENSP00000502768.1:p.Arg1670Gln | |
| ENST00000675453.1:c.5012G>A | ENSP00000502271.1:p.Arg1671Gln | |
| ENST00000675903.1:c.5009G>A MANE Select | ENSP00000502713.1:p.Arg1670Gln | |
| ENST00000283943.9:c.4784G>A | ENSP00000283943.4:p.Arg1595Gln | |
| ENST00000389044.8:c.4928G>A | ENSP00000373696.4:p.Arg1643Gln | |
| ENST00000389045.7:c.3974G>A | ENSP00000373697.3:p.Arg1325Gln | |
| NM_001284214.1:c.4928G>A | NP_001271143.1:p.Arg1643Gln | |
| NM_001284215.1:c.4883G>A | NP_001271144.1:p.Arg1628Gln | |
| NM_001284216.1:c.3974G>A | NP_001271145.1:p.Arg1325Gln | |
| NM_004238.2:c.4784G>A | NP_004229.1:p.Arg1595Gln | |
| XM_005246954.3:c.5012G>A | XP_005247011.1:p.Arg1671Gln | |
| XM_005246955.3:c.5012G>A | XP_005247012.1:p.Arg1671Gln | |
| XM_005246956.3:c.5009G>A | XP_005247013.1:p.Arg1670Gln | |
| XM_005246957.3:c.4997G>A | XP_005247014.1:p.Arg1666Gln | |
| XM_005246958.3:c.4931G>A | XP_005247015.1:p.Arg1644Gln | |
| XM_005246960.3:c.4925G>A | XP_005247017.1:p.Arg1642Gln | |
| XM_005246961.2:c.4886G>A | XP_005247018.1:p.Arg1629Gln | |
| XM_005246962.3:c.4883G>A | XP_005247019.1:p.Arg1628Gln | |
| XM_005246963.3:c.5012G>A | XP_005247020.1:p.Arg1671Gln | |
| XM_006712852.2:c.4886G>A | XP_006712915.1:p.Arg1629Gln | |
| XM_006712853.2:c.4802G>A | XP_006712916.1:p.Arg1601Gln | |
| XM_011512180.1:c.5012G>A | XP_011510482.1:p.Arg1671Gln | |
| XM_011512181.1:c.5012G>A | XP_011510483.1:p.Arg1671Gln | |
| XM_011512182.1:c.5012G>A | XP_011510484.1:p.Arg1671Gln | |
| XM_011512183.1:c.4886G>A | XP_011510485.1:p.Arg1629Gln | |
| XM_011512184.1:c.5012G>A | XP_011510486.1:p.Arg1671Gln | |
| NM_001284215.2:c.4883G>A | NP_001271144.1:p.Arg1628Gln | |
| NM_001348315.1:c.4928G>A | NP_001335244.1:p.Arg1643Gln | |
| NM_001348316.1:c.4883G>A | NP_001335245.1:p.Arg1628Gln | |
| NM_001348317.1:c.4868G>A | NP_001335246.1:p.Arg1623Gln | |
| NM_001348318.1:c.4868G>A | NP_001335247.1:p.Arg1623Gln | |
| NM_001348319.1:c.4994G>A | NP_001335248.1:p.Arg1665Gln | |
| NM_001348320.1:c.4994G>A | NP_001335249.1:p.Arg1665Gln | |
| NM_001348321.1:c.4997G>A | NP_001335250.1:p.Arg1666Gln | |
| NM_001348322.1:c.5009G>A | NP_001335251.1:p.Arg1670Gln | |
| NM_001348323.1:c.5009G>A | NP_001335252.1:p.Arg1670Gln | |
| NM_001348324.1:c.5009G>A | NP_001335253.1:p.Arg1670Gln | |
| NM_001348325.1:c.5009G>A | NP_001335254.1:p.Arg1670Gln | |
| NM_001348326.1:c.5009G>A | NP_001335255.1:p.Arg1670Gln | |
| NM_001348327.1:c.5009G>A | NP_001335256.1:p.Arg1670Gln | |
| NM_001348328.1:c.5012G>A | NP_001335257.1:p.Arg1671Gln | |
| NM_001348329.1:c.5012G>A | NP_001335258.1:p.Arg1671Gln | |
| NM_001348330.1:c.5012G>A | NP_001335259.1:p.Arg1671Gln | |
| NM_001348331.1:c.4787G>A | NP_001335260.1:p.Arg1596Gln | |
| NM_001348332.1:c.4907G>A | NP_001335261.1:p.Arg1636Gln | |
| NM_001348333.1:c.4931G>A | NP_001335262.1:p.Arg1644Gln | |
| XM_005246961.4:c.4886G>A | XP_005247018.1:p.Arg1629Gln | |
| XM_017005283.2:c.4913G>A | XP_016860772.1:p.Arg1638Gln | |
| XM_017005289.2:c.4844G>A | XP_016860778.1:p.Arg1615Gln | |
| XM_017005290.2:c.4841G>A | XP_016860779.1:p.Arg1614Gln | |
| XM_024453223.1:c.5084G>A | XP_024308991.1:p.Arg1695Gln | |
| XM_024453224.1:c.5084G>A | XP_024308992.1:p.Arg1695Gln | |
| XM_024453225.1:c.5084G>A | XP_024308993.1:p.Arg1695Gln | |
| XM_024453226.1:c.5084G>A | XP_024308994.1:p.Arg1695Gln | |
| XM_024453227.1:c.5084G>A | XP_024308995.1:p.Arg1695Gln | |
| XM_024453228.1:c.5084G>A | XP_024308996.1:p.Arg1695Gln | |
| XM_024453229.1:c.5081G>A | XP_024308997.1:p.Arg1694Gln | |
| XM_024453230.1:c.5081G>A | XP_024308998.1:p.Arg1694Gln | |
| XM_024453231.1:c.5003G>A | XP_024308999.1:p.Arg1668Gln | |
| XM_024453232.1:c.5000G>A | XP_024309000.1:p.Arg1667Gln | |
| XM_024453233.1:c.4997G>A | XP_024309001.1:p.Arg1666Gln | |
| XM_024453234.1:c.4997G>A | XP_024309002.1:p.Arg1666Gln | |
| XM_024453235.1:c.4997G>A | XP_024309003.1:p.Arg1666Gln | |
| XM_024453236.1:c.4958G>A | XP_024309004.1:p.Arg1653Gln | |
| XM_024453237.1:c.4958G>A | XP_024309005.1:p.Arg1653Gln | |
| XM_024453238.1:c.4958G>A | XP_024309006.1:p.Arg1653Gln | |
| XM_024453239.1:c.4958G>A | XP_024309007.1:p.Arg1653Gln | |
| XM_024453240.1:c.4958G>A | XP_024309008.1:p.Arg1653Gln | |
| XM_024453241.1:c.4955G>A | XP_024309009.1:p.Arg1652Gln | |
| XM_024453242.1:c.4871G>A | XP_024309010.1:p.Arg1624Gln | |
| XM_024453243.1:c.4802G>A | XP_024309011.1:p.Arg1601Gln | |
| NM_001284214.2:c.4928G>A | NP_001271143.1:p.Arg1643Gln | |
| NM_001284216.2:c.3974G>A | NP_001271145.1:p.Arg1325Gln | |
| NM_001348315.2:c.4928G>A | NP_001335244.1:p.Arg1643Gln | |
| NM_001348316.2:c.4883G>A | NP_001335245.1:p.Arg1628Gln | |
| NM_001348318.2:c.4868G>A | NP_001335247.1:p.Arg1623Gln | |
| NM_001348320.2:c.4994G>A | NP_001335249.1:p.Arg1665Gln | |
| NM_001348323.2:c.5009G>A | NP_001335252.1:p.Arg1670Gln | |
| NM_001348324.2:c.5009G>A | NP_001335253.1:p.Arg1670Gln | |
| NM_001348325.2:c.5009G>A | NP_001335254.1:p.Arg1670Gln | |
| NM_001348326.2:c.5009G>A | NP_001335255.1:p.Arg1670Gln | |
| NM_001348327.2:c.5009G>A | NP_001335256.1:p.Arg1670Gln | |
| NM_001348329.2:c.5012G>A | NP_001335258.1:p.Arg1671Gln | |
| NM_001348330.2:c.5012G>A | NP_001335259.1:p.Arg1671Gln | |
| NM_004238.3:c.4784G>A | NP_004229.1:p.Arg1595Gln | |
| NM_001348323.3:c.5009G>A MANE Select | NP_001335252.1:p.Arg1670Gln |