Linked Data
dbSNP Id:
rs761781705
ExAC:
11:63988114 T / A
gnomAD v2:
11-63988114-T-A
gnomAD v4:
11-64220642-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64220642T>A , CM000673.2:g.64220642T>A | GRCh38 |
| NC_000011.9:g.63988114T>A , CM000673.1:g.63988114T>A | GRCh37 |
| NC_000011.8:g.63744690T>A | NCBI36 |
| NG_016360.1:g.18963T>A , LRG_180:g.18963T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1530T>A | ENSP00000279227.5:p.Arg510= | |
| ENST00000540554.2:n.2696T>A | ||
| ENST00000541252.2:c.978T>A | ENSP00000438885.2:p.Arg326= | |
| ENST00000541326.6:n.939T>A | ||
| ENST00000544997.6:c.1518T>A | ENSP00000445778.2:p.Arg506= | |
| ENST00000545896.2:c.207T>A | ENSP00000440209.2:p.Arg69= | |
| ENST00000546255.2:n.1822T>A | ||
| ENST00000698845.1:c.*713T>A | ENSP00000513981.1:n.*713T>A | |
| ENST00000698846.1:n.1764T>A | ||
| ENST00000698847.1:c.*923T>A | ENSP00000513982.1:n.*923T>A | |
| ENST00000698849.1:n.638T>A | ||
| ENST00000698850.1:n.1286T>A | ||
| ENST00000698852.1:c.1518T>A | ENSP00000513984.1:p.Arg506= | |
| ENST00000698853.1:c.*747T>A | ENSP00000513985.1:n.*747T>A | |
| ENST00000698854.1:c.*848T>A | ENSP00000513986.1:n.*848T>A | |
| ENST00000698855.1:n.3170T>A | ||
| ENST00000698856.1:n.2864T>A | ||
| ENST00000698859.1:n.1682T>A | ||
| ENST00000698860.1:c.1530T>A | ENSP00000513988.1:p.Arg510= | |
| ENST00000698861.1:c.1518T>A | ENSP00000513989.1:p.Arg506= | |
| ENST00000698862.1:c.*814T>A | ENSP00000513990.1:n.*814T>A | |
| ENST00000698863.1:c.1518T>A | ENSP00000513991.1:p.Arg506= | |
| ENST00000698864.1:n.1733T>A | ||
| ENST00000698865.1:c.1539T>A | ENSP00000513992.1:p.Arg513= | |
| ENST00000698866.1:c.*1032T>A | ENSP00000513993.1:n.*1032T>A | |
| ENST00000698867.1:n.5493T>A | ||
| ENST00000698868.1:c.1383T>A | ENSP00000513994.1:p.Arg461= | |
| ENST00000698869.1:c.1311+316T>A | ENSP00000513995.1:n.1311+316T>A | |
| ENST00000698870.1:c.1518T>A | ENSP00000513996.1:p.Arg506= | |
| ENST00000698871.1:n.2041T>A | ||
| ENST00000698872.1:c.*307T>A | ENSP00000513997.1:n.*307T>A | |
| ENST00000698873.1:c.*713T>A | ENSP00000513998.1:n.*713T>A | |
| ENST00000698874.1:c.978T>A | ENSP00000513999.1:p.Arg326= | |
| ENST00000698875.1:n.1378T>A | ||
| ENST00000698876.1:n.1566T>A | ||
| ENST00000698877.1:n.1086T>A | ||
| ENST00000698878.1:c.1512T>A | ENSP00000514000.1:p.Arg504= | |
| ENST00000698880.1:c.1386T>A | ||
| ENST00000345728.10:c.1518T>A MANE Select | ENSP00000339950.5:p.Arg506= | |
| ENST00000279227.9:c.1530T>A | ENSP00000279227.5:p.Arg510= | |
| ENST00000345728.9:c.1518T>A | ENSP00000339950.5:p.Arg506= | |
| ENST00000545896.1:c.206T>A | ENSP00000440209.1:p.Val69Asp | |
| NM_031471.5:c.1518T>A | NP_113659.3:p.Arg506= | |
| NM_178443.2:c.1530T>A , LRG_180t1:c.1530T>A | NP_848537.1:p.Arg510= | |
| XM_011545294.1:c.1530T>A | XP_011543596.1:p.Arg510= | |
| XM_011545295.1:c.990T>A | XP_011543597.1:p.Arg330= | |
| XM_011545296.1:c.990T>A | XP_011543598.1:p.Arg330= | |
| XM_011545294.3:c.1530T>A | XP_011543596.1:p.Arg510= | |
| XM_011545295.2:c.990T>A | XP_011543597.1:p.Arg330= | |
| XM_017018398.2:c.1518T>A | XP_016873887.1:p.Arg506= | |
| XM_017018399.1:c.978T>A | XP_016873888.1:p.Arg326= | |
| NM_031471.6:c.1518T>A MANE Select | NP_113659.3:p.Arg506= | |
| NM_001382361.1:c.1518T>A | NP_001369290.1:p.Arg506= | |
| NM_001382362.1:c.1530T>A | NP_001369291.1:p.Arg510= | |
| NM_001382363.1:c.978T>A | NP_001369292.1:p.Arg326= | |
| NM_001382364.1:c.990T>A | NP_001369293.1:p.Arg330= | |
| NM_001382448.1:c.1518T>A | NP_001369377.1:p.Arg506= | |
| NM_178443.3:c.1530T>A | NP_848537.1:p.Arg510= |