Linked Data
ClinVar Variation Id:
224817
ClinVar RCV Id:
RCV000210408
dbSNP Id:
rs869312867
PubMed:
PMID:26350515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.23536610G>C , CM000674.2:g.23536610G>C | GRCh38 |
| NC_000012.11:g.23689544G>C , CM000674.1:g.23689544G>C | GRCh37 |
| NC_000012.10:g.23580811G>C | NCBI36 |
| NG_029612.1:g.1030837C>G | |
| NG_029612.2:g.1030837C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704296.1:c.583C>G | ENSP00000515820.1:p.Arg195Gly | |
| ENST00000704297.1:c.*500C>G | ENSP00000515821.1:n.*500C>G | |
| ENST00000704298.1:c.*480C>G | ENSP00000515822.1:n.*480C>G | |
| ENST00000704299.1:c.1687C>G | ENSP00000515823.1:p.Arg563Gly | |
| ENST00000451604.7:c.1831C>G MANE Select | ENSP00000398273.2:p.Arg611Gly | |
| ENST00000646273.1:c.1468C>G | ENSP00000493866.1:p.Arg490Gly | |
| ENST00000367206.7:c.*162C>G | ENSP00000356174.3:n.*162C>G | |
| ENST00000381381.6:c.1468C>G | ENSP00000370788.2:p.Arg490Gly | |
| ENST00000396007.6:c.673C>G | ENSP00000379328.2:p.Arg225Gly | |
| ENST00000451604.6:c.1831C>G | ENSP00000398273.2:p.Arg611Gly | |
| ENST00000537393.5:c.1726C>G | ENSP00000439832.1:p.Arg576Gly | |
| ENST00000541536.5:c.1468C>G | ENSP00000441973.1:p.Arg490Gly | |
| ENST00000545921.5:c.1801C>G | ENSP00000443520.1:p.Arg601Gly | |
| ENST00000546136.5:c.1792C>G | ENSP00000437487.1:p.Arg598Gly | |
| NM_001261414.1:c.1468C>G | NP_001248343.1:p.Arg490Gly | |
| NM_001261415.1:c.1801C>G | NP_001248344.1:p.Arg601Gly | |
| NM_006940.4:c.1831C>G | NP_008871.3:p.Arg611Gly | |
| NM_152989.3:c.1792C>G | NP_694534.1:p.Arg598Gly | |
| NM_178010.2:c.673C>G | NP_821078.1:p.Arg225Gly | |
| XM_006719149.2:c.1792C>G | XP_006719212.1:p.Arg598Gly | |
| XM_011520831.1:c.1726C>G | XP_011519133.1:p.Arg576Gly | |
| XM_011520832.1:c.1834C>G | XP_011519134.1:p.Arg612Gly | |
| XM_011520833.1:c.1804C>G | XP_011519135.1:p.Arg602Gly | |
| XM_011520834.1:c.1795C>G | XP_011519136.1:p.Arg599Gly | |
| XM_011520835.1:c.1795C>G | XP_011519137.1:p.Arg599Gly | |
| XM_011520836.1:c.1795C>G | XP_011519138.1:p.Arg599Gly | |
| XM_011520837.1:c.1795C>G | XP_011519139.1:p.Arg599Gly | |
| XM_011520838.1:c.1729C>G | XP_011519140.1:p.Arg577Gly | |
| XM_011520839.1:c.1687C>G | XP_011519141.1:p.Arg563Gly | |
| XM_011520840.1:c.997C>G | XP_011519142.1:p.Arg333Gly | |
| XM_011520841.1:c.997C>G | XP_011519143.1:p.Arg333Gly | |
| XM_011520842.1:c.787C>G | XP_011519144.1:p.Arg263Gly | |
| XM_011520843.1:c.997C>G | XP_011519145.1:p.Arg333Gly | |
| XM_011520844.1:c.583C>G | XP_011519146.1:p.Arg195Gly | |
| XM_011520845.1:c.583C>G | XP_011519147.1:p.Arg195Gly | |
| XM_011520846.1:c.583C>G | XP_011519148.1:p.Arg195Gly | |
| NM_001261414.2:c.1468C>G | NP_001248343.1:p.Arg490Gly | |
| NM_001261415.2:c.1801C>G | NP_001248344.1:p.Arg601Gly | |
| NM_001330785.1:c.1726C>G | NP_001317714.1:p.Arg576Gly | |
| NM_006940.5:c.1831C>G | NP_008871.3:p.Arg611Gly | |
| NM_152989.4:c.1792C>G | NP_694534.1:p.Arg598Gly | |
| NM_178010.3:c.673C>G | NP_821078.1:p.Arg225Gly | |
| XM_011520832.2:c.1834C>G | XP_011519134.1:p.Arg612Gly | |
| XM_011520833.2:c.1804C>G | XP_011519135.1:p.Arg602Gly | |
| XM_011520834.2:c.1795C>G | XP_011519136.1:p.Arg599Gly | |
| XM_011520835.2:c.1795C>G | XP_011519137.1:p.Arg599Gly | |
| XM_011520837.2:c.1795C>G | XP_011519139.1:p.Arg599Gly | |
| XM_011520838.2:c.1729C>G | XP_011519140.1:p.Arg577Gly | |
| XM_011520842.2:c.787C>G | XP_011519144.1:p.Arg263Gly | |
| XM_017019888.1:c.1921C>G | XP_016875377.1:p.Arg641Gly | |
| XM_017019889.1:c.1918C>G | XP_016875378.1:p.Arg640Gly | |
| XM_017019890.1:c.1795C>G | XP_016875379.1:p.Arg599Gly | |
| XM_017019891.1:c.1795C>G | XP_016875380.1:p.Arg599Gly | |
| XM_017019892.1:c.1795C>G | XP_016875381.1:p.Arg599Gly | |
| XM_017019893.1:c.1795C>G | XP_016875382.1:p.Arg599Gly | |
| XM_017019894.1:c.1795C>G | XP_016875383.1:p.Arg599Gly | |
| XM_017019895.1:c.1795C>G | XP_016875384.1:p.Arg599Gly | |
| XM_017019896.1:c.1792C>G | XP_016875385.1:p.Arg598Gly | |
| XM_017019897.1:c.1690C>G | XP_016875386.1:p.Arg564Gly | |
| XM_017019898.1:c.1687C>G | XP_016875387.1:p.Arg563Gly | |
| XM_017019899.1:c.1687C>G | XP_016875388.1:p.Arg563Gly | |
| XM_017019900.1:c.1687C>G | XP_016875389.1:p.Arg563Gly | |
| XM_017019901.1:c.1687C>G | XP_016875390.1:p.Arg563Gly | |
| XM_024449150.1:c.1795C>G | XP_024304918.1:p.Arg599Gly | |
| XM_024449151.1:c.1795C>G | XP_024304919.1:p.Arg599Gly | |
| XM_024449152.1:c.1795C>G | XP_024304920.1:p.Arg599Gly | |
| XM_024449153.1:c.1795C>G | XP_024304921.1:p.Arg599Gly | |
| XM_024449154.1:c.1795C>G | XP_024304922.1:p.Arg599Gly | |
| XM_024449155.1:c.1795C>G | XP_024304923.1:p.Arg599Gly | |
| XM_024449157.1:c.1795C>G | XP_024304925.1:p.Arg599Gly | |
| XM_024449158.1:c.1795C>G | XP_024304926.1:p.Arg599Gly | |
| XM_024449159.1:c.1795C>G | XP_024304927.1:p.Arg599Gly | |
| XM_024449160.1:c.1792C>G | XP_024304928.1:p.Arg598Gly | |
| XM_024449161.1:c.1792C>G | XP_024304929.1:p.Arg598Gly | |
| XM_024449163.1:c.1690C>G | XP_024304931.1:p.Arg564Gly | |
| XM_024449164.1:c.1690C>G | XP_024304932.1:p.Arg564Gly | |
| XM_024449165.1:c.1690C>G | XP_024304933.1:p.Arg564Gly | |
| NM_006940.6:c.1831C>G MANE Select | NP_008871.3:p.Arg611Gly | |
| NM_001261414.3:c.1468C>G | NP_001248343.1:p.Arg490Gly | |
| NM_001330785.2:c.1726C>G | NP_001317714.1:p.Arg576Gly | |
| NM_152989.5:c.1792C>G | NP_694534.1:p.Arg598Gly | |
| NM_178010.4:c.673C>G | NP_821078.1:p.Arg225Gly | |
| NM_001261415.3:c.1801C>G | NP_001248344.1:p.Arg601Gly |