Linked Data
ClinVar Variation Id:
2157513
dbSNP Id:
rs766885690
ExAC:
11:35282451 C / T
gnomAD v2:
11-35282451-C-T
gnomAD v3:
11-35260904-C-T
gnomAD v4:
11-35260904-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35260904C>T , CM000673.2:g.35260904C>T | GRCh38 |
| NC_000011.9:g.35282451C>T , CM000673.1:g.35282451C>T | GRCh37 |
| NC_000011.8:g.35239027C>T | NCBI36 |
| NG_008727.1:g.163655G>A | |
| NG_008727.2:g.163655G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278379.9:c.1715G>A MANE Select | ENSP00000278379.3:p.Arg572His | |
| ENST00000395750.6:c.1703G>A | ENSP00000379099.2:p.Arg568His | |
| ENST00000395753.6:c.1688G>A | ENSP00000379102.1:p.Arg563His | |
| ENST00000479543.2:n.1267G>A | ||
| ENST00000642171.1:c.*97G>A | ENSP00000495538.1:n.*97G>A | |
| ENST00000642448.1:n.1807G>A | ||
| ENST00000642769.1:c.981G>A | ||
| ENST00000643000.1:c.1688G>A | ENSP00000495164.1:p.Arg563His | |
| ENST00000643134.1:c.1702G>A | ENSP00000495188.1:p.Val568Met | |
| ENST00000643522.1:c.1481G>A | ENSP00000496375.1:p.Arg494His | |
| ENST00000644050.1:c.1688G>A | ENSP00000496123.1:p.Arg563His | |
| ENST00000644299.1:c.1688G>A | ENSP00000494669.1:p.Arg563His | |
| ENST00000644459.1:c.*207G>A | ENSP00000495861.1:n.*207G>A | |
| ENST00000644779.1:c.1826G>A | ENSP00000494258.1:p.Arg609His | |
| ENST00000644868.1:c.1777G>A | ENSP00000496760.1:n.1777G>A | |
| ENST00000645194.1:c.1688G>A | ENSP00000496093.1:p.Arg563His | |
| ENST00000645303.1:c.1730G>A | ENSP00000496667.1:p.Arg577His | |
| ENST00000645542.1:n.421G>A | ||
| ENST00000645634.1:c.1688G>A | ENSP00000493945.1:p.Arg563His | |
| ENST00000646080.1:c.1706G>A | ENSP00000494113.1:p.Arg569His | |
| ENST00000647076.1:c.456G>A | ||
| ENST00000647104.1:c.1688G>A | ENSP00000494025.1:p.Arg563His | |
| ENST00000278379.7:c.1715G>A | ENSP00000278379.3:p.Arg572His | |
| ENST00000395750.5:c.1688G>A | ENSP00000379099.1:p.Arg563His | |
| ENST00000395753.5:c.1688G>A | ENSP00000379102.1:p.Arg563His | |
| ENST00000464522.2:c.219+4623G>A | ENSP00000435406.1:n.219+4623G>A | |
| ENST00000479543.1:n.531G>A | ||
| NM_001195728.2:c.1688G>A | NP_001182657.1:p.Arg563His | |
| NM_001252652.1:c.1688G>A | NP_001239581.1:p.Arg563His | |
| NM_004171.3:c.1715G>A | NP_004162.2:p.Arg572His | |
| XM_005253067.1:c.1706G>A | XP_005253124.1:p.Arg569His | |
| XM_011520284.1:c.1763G>A | XP_011518586.1:p.Arg588His | |
| XM_011520285.1:c.1703G>A | XP_011518587.1:p.Arg568His | |
| XM_011520286.1:c.1628G>A | XP_011518588.1:p.Arg543His | |
| XM_011520287.1:c.1529G>A | XP_011518589.1:p.Arg510His | |
| XM_011520285.2:c.1703G>A | XP_011518587.1:p.Arg568His | |
| XM_017018136.1:c.1730G>A | XP_016873625.1:p.Arg577His | |
| XM_017018137.1:c.1688G>A | XP_016873626.1:p.Arg563His | |
| XM_017018138.1:c.1688G>A | XP_016873627.1:p.Arg563His | |
| XM_017018139.1:c.1481G>A | XP_016873628.1:p.Arg494His | |
| NM_004171.4:c.1715G>A MANE Select | NP_004162.2:p.Arg572His | |
| NM_001195728.3:c.1688G>A | NP_001182657.1:p.Arg563His | |
| NM_001252652.2:c.1688G>A | NP_001239581.1:p.Arg563His |