Linked Data
dbSNP Id:
rs771275085
ExAC:
11:63987942 G / A
gnomAD v2:
11-63987942-G-A
gnomAD v3:
11-64220470-G-A
gnomAD v4:
11-64220470-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64220470G>A , CM000673.2:g.64220470G>A | GRCh38 |
| NC_000011.9:g.63987942G>A , CM000673.1:g.63987942G>A | GRCh37 |
| NC_000011.8:g.63744518G>A | NCBI36 |
| NG_016360.1:g.18791G>A , LRG_180:g.18791G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1358G>A | ENSP00000279227.5:p.Arg453His | |
| ENST00000540554.2:n.2524G>A | ||
| ENST00000541252.2:c.806G>A | ENSP00000438885.2:p.Arg269His | |
| ENST00000541326.6:n.767G>A | ||
| ENST00000544997.6:c.1346G>A | ENSP00000445778.2:p.Arg449His | |
| ENST00000545896.2:c.35G>A | ENSP00000440209.2:p.Arg12His | |
| ENST00000546255.2:n.1650G>A | ||
| ENST00000698845.1:c.*541G>A | ENSP00000513981.1:n.*541G>A | |
| ENST00000698846.1:n.1592G>A | ||
| ENST00000698847.1:c.*751G>A | ENSP00000513982.1:n.*751G>A | |
| ENST00000698848.1:n.644G>A | ||
| ENST00000698849.1:n.466G>A | ||
| ENST00000698850.1:n.1114G>A | ||
| ENST00000698852.1:c.1346G>A | ENSP00000513984.1:p.Arg449His | |
| ENST00000698853.1:c.*575G>A | ENSP00000513985.1:n.*575G>A | |
| ENST00000698854.1:c.*676G>A | ENSP00000513986.1:n.*676G>A | |
| ENST00000698855.1:n.2998G>A | ||
| ENST00000698856.1:n.2692G>A | ||
| ENST00000698859.1:n.1510G>A | ||
| ENST00000698860.1:c.1358G>A | ENSP00000513988.1:p.Arg453His | |
| ENST00000698861.1:c.1346G>A | ENSP00000513989.1:p.Arg449His | |
| ENST00000698862.1:c.*642G>A | ENSP00000513990.1:n.*642G>A | |
| ENST00000698863.1:c.1346G>A | ENSP00000513991.1:p.Arg449His | |
| ENST00000698864.1:n.1561G>A | ||
| ENST00000698865.1:c.1367G>A | ENSP00000513992.1:p.Arg456His | |
| ENST00000698866.1:c.*860G>A | ENSP00000513993.1:n.*860G>A | |
| ENST00000698867.1:n.5321G>A | ||
| ENST00000698868.1:c.1211G>A | ENSP00000513994.1:p.Arg404His | |
| ENST00000698869.1:c.1311+144G>A | ENSP00000513995.1:n.1311+144G>A | |
| ENST00000698870.1:c.1346G>A | ENSP00000513996.1:p.Arg449His | |
| ENST00000698871.1:n.1869G>A | ||
| ENST00000698872.1:c.*135G>A | ENSP00000513997.1:n.*135G>A | |
| ENST00000698873.1:c.*541G>A | ENSP00000513998.1:n.*541G>A | |
| ENST00000698874.1:c.806G>A | ENSP00000513999.1:p.Arg269His | |
| ENST00000698875.1:n.1206G>A | ||
| ENST00000698876.1:n.1394G>A | ||
| ENST00000698877.1:n.914G>A | ||
| ENST00000698878.1:c.1340G>A | ENSP00000514000.1:p.Arg447His | |
| ENST00000698880.1:c.1214G>A | ||
| ENST00000345728.10:c.1346G>A MANE Select | ENSP00000339950.5:p.Arg449His | |
| ENST00000279227.9:c.1358G>A | ENSP00000279227.5:p.Arg453His | |
| ENST00000345728.9:c.1346G>A | ENSP00000339950.5:p.Arg449His | |
| ENST00000541326.5:n.762G>A | ||
| ENST00000545896.1:c.34G>A | ENSP00000440209.1:p.Ala12Thr | |
| NM_031471.5:c.1346G>A | NP_113659.3:p.Arg449His | |
| NM_178443.2:c.1358G>A , LRG_180t1:c.1358G>A | NP_848537.1:p.Arg453His | |
| XM_011545294.1:c.1358G>A | XP_011543596.1:p.Arg453His | |
| XM_011545295.1:c.818G>A | XP_011543597.1:p.Arg273His | |
| XM_011545296.1:c.818G>A | XP_011543598.1:p.Arg273His | |
| XM_011545294.3:c.1358G>A | XP_011543596.1:p.Arg453His | |
| XM_011545295.2:c.818G>A | XP_011543597.1:p.Arg273His | |
| XM_017018398.2:c.1346G>A | XP_016873887.1:p.Arg449His | |
| XM_017018399.1:c.806G>A | XP_016873888.1:p.Arg269His | |
| NM_031471.6:c.1346G>A MANE Select | NP_113659.3:p.Arg449His | |
| NM_001382361.1:c.1346G>A | NP_001369290.1:p.Arg449His | |
| NM_001382362.1:c.1358G>A | NP_001369291.1:p.Arg453His | |
| NM_001382363.1:c.806G>A | NP_001369292.1:p.Arg269His | |
| NM_001382364.1:c.818G>A | NP_001369293.1:p.Arg273His | |
| NM_001382448.1:c.1346G>A | NP_001369377.1:p.Arg449His | |
| NM_178443.3:c.1358G>A | NP_848537.1:p.Arg453His |