ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.23604491C>A , CM000674.2:g.23604491C>A | GRCh38 |
| NC_000012.11:g.23757425C>A , CM000674.1:g.23757425C>A | GRCh37 |
| NC_000012.10:g.23648692C>A | NCBI36 |
| NG_029612.1:g.962956G>T | |
| NG_029612.2:g.962956G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704298.1:c.1021G>T | ENSP00000515822.1:p.Gly341Ter | |
| ENST00000704299.1:c.916G>T | ENSP00000515823.1:p.Gly306Ter | |
| ENST00000451604.7:c.1060G>T MANE Select | ENSP00000398273.2:p.Gly354Ter | |
| ENST00000646273.1:c.1021G>T | ENSP00000493866.1:p.Gly341Ter | |
| ENST00000367206.7:c.1030G>T | ENSP00000356174.3:p.Gly344Ter | |
| ENST00000381381.6:c.1021G>T | ENSP00000370788.2:p.Gly341Ter | |
| ENST00000451604.6:c.1060G>T | ENSP00000398273.2:p.Gly354Ter | |
| ENST00000535530.5:n.384G>T | ||
| ENST00000536629.5:n.440G>T | ||
| ENST00000536911.1:n.285G>T | ||
| ENST00000537393.5:c.955G>T | ENSP00000439832.1:p.Gly319Ter | |
| ENST00000541536.5:c.1021G>T | ENSP00000441973.1:p.Gly341Ter | |
| ENST00000542241.5:n.92G>T | ||
| ENST00000545921.5:c.1030G>T | ENSP00000443520.1:p.Gly344Ter | |
| ENST00000546136.5:c.1021G>T | ENSP00000437487.1:p.Gly341Ter | |
| NM_001261414.1:c.1021G>T | NP_001248343.1:p.Gly341Ter | |
| NM_001261415.1:c.1030G>T | NP_001248344.1:p.Gly344Ter | |
| NM_006940.4:c.1060G>T | NP_008871.3:p.Gly354Ter | |
| NM_152989.3:c.1021G>T | NP_694534.1:p.Gly341Ter | |
| XM_006719149.2:c.1021G>T | XP_006719212.1:p.Gly341Ter | |
| XM_011520831.1:c.955G>T | XP_011519133.1:p.Gly319Ter | |
| XM_011520832.1:c.1063G>T | XP_011519134.1:p.Gly355Ter | |
| XM_011520833.1:c.1033G>T | XP_011519135.1:p.Gly345Ter | |
| XM_011520834.1:c.1024G>T | XP_011519136.1:p.Gly342Ter | |
| XM_011520835.1:c.1024G>T | XP_011519137.1:p.Gly342Ter | |
| XM_011520836.1:c.1024G>T | XP_011519138.1:p.Gly342Ter | |
| XM_011520837.1:c.1024G>T | XP_011519139.1:p.Gly342Ter | |
| XM_011520838.1:c.958G>T | XP_011519140.1:p.Gly320Ter | |
| XM_011520839.1:c.916G>T | XP_011519141.1:p.Gly306Ter | |
| XM_011520840.1:c.226G>T | XP_011519142.1:p.Gly76Ter | |
| XM_011520841.1:c.226G>T | XP_011519143.1:p.Gly76Ter | |
| XM_011520842.1:c.16G>T | XP_011519144.1:p.Gly6Ter | |
| XM_011520843.1:c.226G>T | XP_011519145.1:p.Gly76Ter | |
| NM_001261414.2:c.1021G>T | NP_001248343.1:p.Gly341Ter | |
| NM_001261415.2:c.1030G>T | NP_001248344.1:p.Gly344Ter | |
| NM_001330785.1:c.955G>T | NP_001317714.1:p.Gly319Ter | |
| NM_006940.5:c.1060G>T | NP_008871.3:p.Gly354Ter | |
| NM_152989.4:c.1021G>T | NP_694534.1:p.Gly341Ter | |
| XM_011520832.2:c.1063G>T | XP_011519134.1:p.Gly355Ter | |
| XM_011520833.2:c.1033G>T | XP_011519135.1:p.Gly345Ter | |
| XM_011520834.2:c.1024G>T | XP_011519136.1:p.Gly342Ter | |
| XM_011520835.2:c.1024G>T | XP_011519137.1:p.Gly342Ter | |
| XM_011520837.2:c.1024G>T | XP_011519139.1:p.Gly342Ter | |
| XM_011520838.2:c.958G>T | XP_011519140.1:p.Gly320Ter | |
| XM_011520842.2:c.16G>T | XP_011519144.1:p.Gly6Ter | |
| XM_017019888.1:c.1150G>T | XP_016875377.1:p.Gly384Ter | |
| XM_017019889.1:c.1147G>T | XP_016875378.1:p.Gly383Ter | |
| XM_017019890.1:c.1024G>T | XP_016875379.1:p.Gly342Ter | |
| XM_017019891.1:c.1024G>T | XP_016875380.1:p.Gly342Ter | |
| XM_017019892.1:c.1024G>T | XP_016875381.1:p.Gly342Ter | |
| XM_017019893.1:c.1024G>T | XP_016875382.1:p.Gly342Ter | |
| XM_017019894.1:c.1024G>T | XP_016875383.1:p.Gly342Ter | |
| XM_017019895.1:c.1024G>T | XP_016875384.1:p.Gly342Ter | |
| XM_017019896.1:c.1021G>T | XP_016875385.1:p.Gly341Ter | |
| XM_017019897.1:c.919G>T | XP_016875386.1:p.Gly307Ter | |
| XM_017019898.1:c.916G>T | XP_016875387.1:p.Gly306Ter | |
| XM_017019899.1:c.916G>T | XP_016875388.1:p.Gly306Ter | |
| XM_017019900.1:c.916G>T | XP_016875389.1:p.Gly306Ter | |
| XM_017019901.1:c.916G>T | XP_016875390.1:p.Gly306Ter | |
| XM_017019902.1:c.1063G>T | XP_016875391.1:p.Gly355Ter | |
| XM_017019903.1:c.1060G>T | XP_016875392.1:p.Gly354Ter | |
| XM_024449150.1:c.1024G>T | XP_024304918.1:p.Gly342Ter | |
| XM_024449151.1:c.1024G>T | XP_024304919.1:p.Gly342Ter | |
| XM_024449152.1:c.1024G>T | XP_024304920.1:p.Gly342Ter | |
| XM_024449153.1:c.1024G>T | XP_024304921.1:p.Gly342Ter | |
| XM_024449154.1:c.1024G>T | XP_024304922.1:p.Gly342Ter | |
| XM_024449155.1:c.1024G>T | XP_024304923.1:p.Gly342Ter | |
| XM_024449157.1:c.1024G>T | XP_024304925.1:p.Gly342Ter | |
| XM_024449158.1:c.1024G>T | XP_024304926.1:p.Gly342Ter | |
| XM_024449159.1:c.1024G>T | XP_024304927.1:p.Gly342Ter | |
| XM_024449160.1:c.1021G>T | XP_024304928.1:p.Gly341Ter | |
| XM_024449161.1:c.1021G>T | XP_024304929.1:p.Gly341Ter | |
| XM_024449163.1:c.919G>T | XP_024304931.1:p.Gly307Ter | |
| XM_024449164.1:c.919G>T | XP_024304932.1:p.Gly307Ter | |
| XM_024449165.1:c.919G>T | XP_024304933.1:p.Gly307Ter | |
| NM_006940.6:c.1060G>T MANE Select | NP_008871.3:p.Gly354Ter | |
| NM_001261414.3:c.1021G>T | NP_001248343.1:p.Gly341Ter | |
| NM_001330785.2:c.955G>T | NP_001317714.1:p.Gly319Ter | |
| NM_152989.5:c.1021G>T | NP_694534.1:p.Gly341Ter | |
| NM_001261415.3:c.1030G>T | NP_001248344.1:p.Gly344Ter |