Linked Data
ClinVar Variation Id:
43247
dbSNP Id:
rs397516311
ExAC:
11:76910588 G / A
gnomAD v2:
11-76910588-G-A
gnomAD v3:
11-77199543-G-A
gnomAD v4:
11-77199543-G-A
COSMIC:
COSM932150
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77199543G>A , CM000673.2:g.77199543G>A | GRCh38 |
| NC_000011.9:g.76910588G>A , CM000673.1:g.76910588G>A | GRCh37 |
| NC_000011.8:g.76588236G>A | NCBI36 |
| NG_009086.1:g.76279G>A | |
| NG_009086.2:g.76298G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.4577G>A MANE Select | ENSP00000386331.3:p.Arg1526His | |
| ENST00000670577.1:c.2418G>A | ||
| ENST00000409619.6:c.4536-106G>A | ENSP00000386635.2:n.4536-106G>A | |
| ENST00000409709.7:c.4577G>A | ENSP00000386331.3:p.Arg1526His | |
| ENST00000458169.2:c.2112-106G>A | ENSP00000417017.2:n.2112-106G>A | |
| ENST00000458637.6:c.4569-106G>A | ENSP00000392185.2:n.4569-106G>A | |
| ENST00000481328.7:n.2222-106G>A | ||
| NM_000260.3:c.4577G>A | NP_000251.3:p.Arg1526His | |
| NM_001127180.1:c.4569-106G>A | NP_001120652.1:n.4569-106G>A | |
| XM_005274012.2:c.4569-106G>A | XP_005274069.1:n.4569-106G>A | |
| XM_006718558.2:c.4677-106G>A | XP_006718621.1:n.4677-106G>A | |
| XM_006718559.2:c.4569-106G>A | XP_006718622.1:n.4569-106G>A | |
| XM_006718560.2:c.4569-106G>A | XP_006718623.1:n.4569-106G>A | |
| XM_006718561.2:c.4569-106G>A | XP_006718624.1:n.4569-106G>A | |
| XM_011545044.1:c.4577G>A | XP_011543346.1:p.Arg1526His | |
| XM_011545045.1:c.4677-106G>A | XP_011543347.1:n.4677-106G>A | |
| XM_011545046.1:c.4544G>A | XP_011543348.1:p.Arg1515His | |
| XM_011545047.1:c.4587-106G>A | XP_011543349.1:n.4587-106G>A | |
| XM_011545048.1:c.4458-106G>A | XP_011543350.1:n.4458-106G>A | |
| XM_011545049.1:c.4446-106G>A | XP_011543351.1:n.4446-106G>A | |
| XM_011545050.1:c.4419-106G>A | XP_011543352.1:n.4419-106G>A | |
| XM_011545051.1:c.4577G>A | XP_011543353.1:p.Arg1526His | |
| XM_011545052.1:c.4577G>A | XP_011543354.1:p.Arg1526His | |
| XR_949938.1:n.4897G>A | ||
| XR_949941.1:n.4897G>A | ||
| XR_949942.1:n.4899G>A | ||
| XM_011545044.2:c.4577G>A | XP_011543346.1:p.Arg1526His | |
| XM_011545046.2:c.4667G>A | XP_011543348.2:p.Arg1556His | |
| XM_011545050.2:c.4419-106G>A | XP_011543352.1:n.4419-106G>A | |
| XM_017017778.1:c.4767-106G>A | XP_016873267.1:n.4767-106G>A | |
| XM_017017779.1:c.4767-106G>A | XP_016873268.1:n.4767-106G>A | |
| XM_017017780.1:c.4667G>A | XP_016873269.1:p.Arg1556His | |
| XM_017017781.1:c.4677-106G>A | XP_016873270.1:n.4677-106G>A | |
| XM_017017782.1:c.4659-106G>A | XP_016873271.1:n.4659-106G>A | |
| XM_017017783.1:c.4659-106G>A | XP_016873272.1:n.4659-106G>A | |
| XM_017017784.1:c.4659-106G>A | XP_016873273.1:n.4659-106G>A | |
| XM_017017785.1:c.4536-106G>A | XP_016873274.1:n.4536-106G>A | |
| XM_017017786.1:c.4667G>A | XP_016873275.1:p.Arg1556His | |
| XM_017017788.1:c.4659-106G>A | XP_016873277.1:n.4659-106G>A | |
| XR_001747885.1:n.4682G>A | ||
| XR_001747886.1:n.4682G>A | ||
| XR_001747887.1:n.4682G>A | ||
| XR_001747888.1:n.4682G>A | ||
| NM_000260.4:c.4577G>A MANE Select | NP_000251.3:p.Arg1526His | |
| NM_001127180.2:c.4569-106G>A | NP_001120652.1:n.4569-106G>A | |
| NM_001369365.1:c.4536-106G>A | NP_001356294.1:n.4536-106G>A |