Linked Data
dbSNP Id:
rs763896138
ExAC:
13:51517518 G / T
gnomAD v2:
13-51517518-G-T
gnomAD v4:
13-50943382-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50943382G>T , CM000675.2:g.50943382G>T | GRCh38 |
| NC_000013.10:g.51517518G>T , CM000675.1:g.51517518G>T | GRCh37 |
| NC_000013.9:g.50415519G>T | NCBI36 |
| NG_009055.1:g.38627G>T , LRG_279:g.38627G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336617.8:c.498G>T MANE Select | ENSP00000337623.2:p.Trp166Cys | |
| ENST00000422660.6:c.498G>T | ENSP00000389877.1:p.Trp166Cys | |
| ENST00000459681.3:n.181G>T | ||
| ENST00000495244.7:n.509G>T | ||
| ENST00000611510.5:c.408G>T | ENSP00000481236.3:p.Trp136Cys | |
| ENST00000616907.2:c.498G>T | ENSP00000482701.2:p.Trp166Cys | |
| ENST00000642207.1:c.237G>T | ||
| ENST00000642454.1:c.408G>T | ENSP00000494221.1:p.Trp136Cys | |
| ENST00000642721.1:c.498G>T | ENSP00000495650.1:p.Trp166Cys | |
| ENST00000642995.1:c.381G>T | ENSP00000493499.1:p.Trp127Cys | |
| ENST00000643159.1:c.408G>T | ENSP00000495587.1:p.Trp136Cys | |
| ENST00000643215.1:c.368G>T | ||
| ENST00000643405.1:c.146G>T | ||
| ENST00000643529.1:c.11G>T | ||
| ENST00000643682.1:c.498G>T | ENSP00000493655.1:p.Trp166Cys | |
| ENST00000643774.1:c.462G>T | ENSP00000495482.1:p.Trp154Cys | |
| ENST00000644034.1:c.65-4605G>T | ENSP00000495456.1:n.65-4605G>T | |
| ENST00000644183.1:c.388G>T | ENSP00000495657.1:n.388G>T | |
| ENST00000644297.1:c.*356G>T | ENSP00000495519.1:n.*356G>T | |
| ENST00000644420.1:n.524G>T | ||
| ENST00000644425.1:c.449G>T | ||
| ENST00000644518.1:c.*365G>T | ENSP00000495793.1:n.*365G>T | |
| ENST00000645188.1:c.489G>T | ENSP00000496224.1:p.Trp163Cys | |
| ENST00000645333.1:n.430G>T | ||
| ENST00000645370.1:c.333G>T | ENSP00000494019.1:p.Trp111Cys | |
| ENST00000645618.1:c.408G>T | ENSP00000495429.1:p.Trp136Cys | |
| ENST00000645712.1:n.522G>T | ||
| ENST00000645955.1:c.498G>T | ENSP00000495755.1:p.Trp166Cys | |
| ENST00000645990.1:c.498G>T | ENSP00000496571.1:p.Trp166Cys | |
| ENST00000646092.1:c.462G>T | ENSP00000496293.1:p.Trp154Cys | |
| ENST00000646279.1:n.795G>T | ||
| ENST00000646339.1:c.160G>T | ENSP00000495773.1:n.160G>T | |
| ENST00000646709.1:c.408G>T | ENSP00000495278.1:p.Trp136Cys | |
| ENST00000646731.1:c.489G>T | ENSP00000493828.1:p.Trp163Cys | |
| ENST00000646960.1:c.498G>T | ENSP00000496481.1:p.Trp166Cys | |
| ENST00000646964.1:n.1137G>T | ||
| ENST00000647387.1:c.408G>T | ENSP00000495487.1:p.Trp136Cys | |
| ENST00000336617.7:c.498G>T | ENSP00000337623.2:p.Trp166Cys | |
| ENST00000422660.5:c.498G>T | ENSP00000389877.1:p.Trp166Cys | |
| ENST00000495244.6:n.509G>T | ||
| ENST00000611510.4:c.498G>T | ENSP00000481236.2:p.Trp166Cys | |
| ENST00000613449.4:n.2560G>T | ||
| ENST00000621641.1:n.86G>T | ||
| NM_001142279.2:c.498G>T , LRG_279t1:c.498G>T | NP_001135751.1:p.Trp166Cys | |
| NM_024570.3:c.498G>T , LRG_279t2:c.498G>T | NP_078846.2:p.Trp166Cys | |
| XM_005266524.2:c.498G>T | XP_005266581.1:p.Trp166Cys | |
| XM_005266525.2:c.498G>T | XP_005266582.1:p.Trp166Cys | |
| XM_006719867.2:c.480G>T | XP_006719930.1:p.Trp160Cys | |
| XM_011535229.1:c.498G>T | XP_011533531.1:p.Trp166Cys | |
| XM_011535230.1:c.498G>T | XP_011533532.1:p.Trp166Cys | |
| XM_011535231.1:c.498G>T | XP_011533533.1:p.Trp166Cys | |
| XM_011535232.1:c.336G>T | XP_011533534.1:p.Trp112Cys | |
| XM_011535233.1:c.90G>T | XP_011533535.1:p.Trp30Cys | |
| XM_011535234.1:c.498G>T | XP_011533536.1:p.Trp166Cys | |
| XM_006719867.4:c.480G>T | XP_006719930.1:p.Trp160Cys | |
| XM_011535230.2:c.498G>T | XP_011533532.1:p.Trp166Cys | |
| XM_011535231.2:c.498G>T | XP_011533533.1:p.Trp166Cys | |
| XM_011535233.2:c.90G>T | XP_011533535.1:p.Trp30Cys | |
| XM_017020747.1:c.498G>T | XP_016876236.1:p.Trp166Cys | |
| NM_024570.4:c.498G>T MANE Select | NP_078846.2:p.Trp166Cys |