Linked Data
ClinVar Variation Id:
497139
dbSNP Id:
rs200068841
ExAC:
7:77789527 C / T
gnomAD v2:
7-77789527-C-T
gnomAD v3:
7-78160210-C-T
gnomAD v4:
7-78160210-C-T
COSMIC:
COSM4700003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.78160210C>T , CM000669.2:g.78160210C>T | GRCh38 |
| NC_000007.13:g.77789527C>T , CM000669.1:g.77789527C>T | GRCh37 |
| NC_000007.12:g.77627463C>T | NCBI36 |
| NG_011487.1:g.1298364G>A | |
| NG_011487.2:g.1298365G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354212.9:c.2660G>A MANE Select | ENSP00000346151.4:p.Arg887His | |
| ENST00000636178.1:c.1730G>A | ENSP00000489709.1:p.Arg577His | |
| ENST00000637282.1:c.1439G>A | ENSP00000490637.1:p.Arg480His | |
| ENST00000637441.1:c.2618G>A | ENSP00000489633.1:p.Arg873His | |
| ENST00000637486.1:c.*762G>A | ENSP00000490080.1:n.*762G>A | |
| ENST00000354212.8:c.2660G>A | ENSP00000346151.4:p.Arg887His | |
| ENST00000419488.5:c.2618G>A | ENSP00000405766.1:p.Arg873His | |
| ENST00000519748.5:c.1439G>A | ENSP00000486774.1:p.Arg480His | |
| ENST00000522342.3:c.314G>A | ENSP00000486379.1:p.Arg105His | |
| ENST00000522391.3:c.2660G>A | ENSP00000428389.1:p.Arg887His | |
| ENST00000524268.1:c.122G>A | ENSP00000487001.1:p.Arg41His | |
| ENST00000535697.5:c.2204G>A | ENSP00000441603.3:p.Arg735His | |
| ENST00000626691.2:c.2171G>A | ENSP00000486131.1:p.Arg724His | |
| ENST00000628361.1:c.575G>A | ENSP00000486154.1:p.Arg192His | |
| ENST00000628980.2:c.2246G>A | ENSP00000487526.1:p.Arg749His | |
| ENST00000629359.2:c.2129G>A | ENSP00000487448.1:p.Arg710His | |
| NM_001301128.1:c.2618G>A | NP_001288057.1:p.Arg873His | |
| NM_012301.3:c.2660G>A | NP_036433.2:p.Arg887His | |
| XM_011516718.1:c.2660G>A | XP_011515020.1:p.Arg887His | |
| XM_011516719.1:c.2300G>A | XP_011515021.1:p.Arg767His | |
| XM_011516720.1:c.2300G>A | XP_011515022.1:p.Arg767His | |
| XM_011516721.1:c.2129G>A | XP_011515023.1:p.Arg710His | |
| XM_011516722.1:c.2120G>A | XP_011515024.1:p.Arg707His | |
| XM_011516723.1:c.2660G>A | XP_011515025.1:p.Arg887His | |
| XM_011516724.1:c.2660G>A | XP_011515026.1:p.Arg887His | |
| XM_011516725.1:c.2660G>A | XP_011515027.1:p.Arg887His | |
| XM_011516726.1:c.1616G>A | XP_011515028.1:p.Arg539His | |
| XM_011516727.1:c.1616G>A | XP_011515029.1:p.Arg539His | |
| XM_011516728.1:c.1487G>A | XP_011515030.1:p.Arg496His | |
| XM_011516729.1:c.1439G>A | XP_011515031.1:p.Arg480His | |
| XM_011516718.2:c.2660G>A | XP_011515020.1:p.Arg887His | |
| XM_011516719.3:c.2300G>A | XP_011515021.1:p.Arg767His | |
| XM_011516720.3:c.2300G>A | XP_011515022.1:p.Arg767His | |
| XM_011516726.3:c.1616G>A | XP_011515028.1:p.Arg539His | |
| XM_017012840.2:c.2789G>A | XP_016868329.1:p.Arg930His | |
| XM_017012841.2:c.2786G>A | XP_016868330.1:p.Arg929His | |
| XM_017012842.2:c.2783G>A | XP_016868331.1:p.Arg928His | |
| XM_017012843.2:c.2747G>A | XP_016868332.1:p.Arg916His | |
| XM_017012844.2:c.2789G>A | XP_016868333.1:p.Arg930His | |
| XM_017012845.2:c.2654G>A | XP_016868334.1:p.Arg885His | |
| XM_017012846.2:c.2618G>A | XP_016868335.1:p.Arg873His | |
| XM_017012847.2:c.2300G>A | XP_016868336.1:p.Arg767His | |
| XM_017012848.2:c.2171G>A | XP_016868337.1:p.Arg724His | |
| XM_017012849.2:c.2165G>A | XP_016868338.1:p.Arg722His | |
| XM_017012850.2:c.2789G>A | XP_016868339.1:p.Arg930His | |
| XM_017012851.2:c.2789G>A | XP_016868340.1:p.Arg930His | |
| XM_017012852.2:c.2789G>A | XP_016868341.1:p.Arg930His | |
| XM_024447009.1:c.2300G>A | XP_024302777.1:p.Arg767His | |
| NM_012301.4:c.2660G>A MANE Select | NP_036433.2:p.Arg887His | |
| NM_001301128.2:c.2618G>A | NP_001288057.1:p.Arg873His |