ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157181056C>T , CM000668.2:g.157181056C>T | GRCh38 |
| NC_000006.11:g.157502190C>T , CM000668.1:g.157502190C>T | GRCh37 |
| NC_000006.10:g.157543882C>T | NCBI36 |
| NG_032093.1:g.408127C>T | |
| NG_032093.2:g.408127C>T | |
| NG_066624.1:g.410031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3433C>T | ENSP00000055163.8:p.Arg1145Ter | |
| ENST00000414678.8:c.3502C>T | ENSP00000412835.3:p.Arg1168Ter | |
| ENST00000637015.2:c.3721C>T | ENSP00000489729.2:p.Arg1241Ter | |
| ENST00000319584.11:c.1606C>T | ENSP00000313006.7:p.Arg536Ter | |
| ENST00000346085.10:c.3472C>T | ENSP00000344546.5:p.Arg1158Ter | |
| ENST00000350026.10:c.3184C>T | ENSP00000055163.7:p.Arg1062Ter | |
| ENST00000414678.7:c.1750C>T | ENSP00000412835.2:p.Arg584Ter | |
| ENST00000635849.1:c.913C>T | ENSP00000490948.1:p.Arg305Ter | |
| ENST00000635957.1:c.547C>T | ENSP00000490385.1:p.Arg183Ter | |
| ENST00000636930.2:c.3592C>T MANE Select | ENSP00000490491.2:p.Arg1198Ter | |
| ENST00000636940.1:n.1589C>T | ||
| ENST00000637015.1:c.960C>T | ||
| ENST00000637568.1:c.874C>T | ||
| ENST00000637741.1:n.258C>T | ||
| ENST00000637810.1:c.934C>T | ENSP00000489636.1:p.Arg312Ter | |
| ENST00000637904.1:c.1093C>T | ENSP00000490550.1:p.Arg365Ter | |
| ENST00000647938.1:c.3223C>T | ENSP00000498155.1:p.Arg1075Ter | |
| ENST00000319584.10:c.1609C>T | ENSP00000313006.6:p.Arg537Ter | |
| ENST00000346085.9:c.3223C>T | ENSP00000344546.4:p.Arg1075Ter | |
| ENST00000350026.9:c.3184C>T | ENSP00000055163.7:p.Arg1062Ter | |
| ENST00000400790.3:c.385C>T | ENSP00000383596.3:p.Arg129Ter | |
| ENST00000414678.6:c.1750C>T | ENSP00000412835.2:p.Arg584Ter | |
| ENST00000478761.3:c.794C>T | ||
| NM_017519.2:c.3184C>T | NP_059989.2:p.Arg1062Ter | |
| NM_020732.3:c.3223C>T | NP_065783.3:p.Arg1075Ter | |
| XM_005267069.3:c.3343C>T | XP_005267126.2:p.Arg1115Ter | |
| XM_011535984.1:c.2422C>T | XP_011534286.1:p.Arg808Ter | |
| XM_011535985.1:c.2242C>T | XP_011534287.1:p.Arg748Ter | |
| XM_011535986.1:c.2002C>T | XP_011534288.1:p.Arg668Ter | |
| XM_011535987.1:c.1621C>T | XP_011534289.1:p.Arg541Ter | |
| XM_011535988.1:c.484C>T | XP_011534290.1:p.Arg162Ter | |
| NM_001346813.1:c.3343C>T | NP_001333742.1:p.Arg1115Ter | |
| NM_001363725.1:c.1093C>T | NP_001350654.1:p.Arg365Ter | |
| XM_011535984.2:c.3553C>T | XP_011534286.2:p.Arg1185Ter | |
| XM_011535988.3:c.484C>T | XP_011534290.1:p.Arg162Ter | |
| XM_017011103.2:c.3454C>T | XP_016866592.1:p.Arg1152Ter | |
| XM_017011104.1:c.3424C>T | XP_016866593.1:p.Arg1142Ter | |
| XM_017011105.2:c.3394C>T | XP_016866594.1:p.Arg1132Ter | |
| XM_017011106.2:c.3265C>T | XP_016866595.1:p.Arg1089Ter | |
| XM_017011107.2:c.3244C>T | XP_016866596.1:p.Arg1082Ter | |
| XR_002956289.1:n.3636C>T | ||
| NM_001363725.2:c.1093C>T | NP_001350654.1:p.Arg365Ter | |
| NM_001371656.1:c.3472C>T | NP_001358585.1:p.Arg1158Ter | |
| NM_001374820.1:c.3472C>T | NP_001361749.1:p.Arg1158Ter | |
| NM_001374828.1:c.3592C>T MANE Select | NP_001361757.1:p.Arg1198Ter | |
| NM_017519.3:c.3433C>T | NP_059989.3:p.Arg1145Ter |