ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144401211G>A , CM000664.2:g.144401211G>A | GRCh38 |
| NC_000002.11:g.145158778G>A , CM000664.1:g.145158778G>A | GRCh37 |
| NC_000002.10:g.144875248G>A | NCBI36 |
| NG_016431.1:g.124181C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*753C>T | ENSP00000508434.1:n.*753C>T | |
| ENST00000440875.6:c.127C>T | ENSP00000475553.3:p.Arg43Ter | |
| ENST00000627532.3:c.904C>T MANE Select | ENSP00000487174.1:p.Arg302Ter | |
| ENST00000636026.2:c.904C>T | ENSP00000490776.1:p.Arg302Ter | |
| ENST00000636179.1:n.873C>T | ||
| ENST00000636413.1:c.568C>T | ENSP00000490508.1:p.Arg190Ter | |
| ENST00000636471.1:c.904C>T | ENSP00000490317.1:p.Arg302Ter | |
| ENST00000636732.2:c.*621C>T | ENSP00000490175.1:n.*621C>T | |
| ENST00000636820.1:n.1004C>T | ||
| ENST00000637045.1:c.568C>T | ENSP00000490141.1:p.Arg190Ter | |
| ENST00000637267.2:c.904C>T | ENSP00000490293.2:p.Arg302Ter | |
| ENST00000637304.1:c.568C>T | ENSP00000490872.1:p.Arg190Ter | |
| ENST00000638007.1:c.568C>T | ENSP00000490723.1:p.Arg190Ter | |
| ENST00000638087.1:c.568C>T | ENSP00000490673.1:p.Arg190Ter | |
| ENST00000638128.1:c.127C>T | ENSP00000490934.1:p.Arg43Ter | |
| ENST00000675069.1:c.-133-2361C>T | ENSP00000502467.1:n.-133-2361C>T | |
| ENST00000675145.1:n.1452C>T | ||
| ENST00000303660.8:c.901C>T | ENSP00000302501.4:p.Arg301Ter | |
| ENST00000392861.6:c.988C>T | ENSP00000376601.3:p.Arg330Ter | |
| ENST00000409487.7:c.904C>T | ENSP00000386854.2:p.Arg302Ter | |
| ENST00000419938.5:c.643C>T | ENSP00000394777.2:p.Arg215Ter | |
| ENST00000427902.5:c.991C>T | ENSP00000395496.2:p.Arg331Ter | |
| ENST00000440875.5:c.889C>T | ENSP00000475553.2:p.Arg297Ter | |
| ENST00000539609.7:c.832C>T | ENSP00000443792.2:p.Arg278Ter | |
| ENST00000558170.6:c.904C>T | ENSP00000454157.1:p.Arg302Ter | |
| ENST00000627532.2:c.904C>T | ENSP00000487174.1:p.Arg302Ter | |
| NM_001171653.1:c.832C>T | NP_001165124.1:p.Arg278Ter | |
| NM_014795.3:c.904C>T | NP_055610.1:p.Arg302Ter | |
| XM_006712881.2:c.904C>T | XP_006712944.1:p.Arg302Ter | |
| XM_006712882.2:c.904C>T | XP_006712945.1:p.Arg302Ter | |
| XM_011512231.1:c.895C>T | XP_011510533.1:p.Arg299Ter | |
| XM_011512232.1:c.883C>T | XP_011510534.1:p.Arg295Ter | |
| NM_014795.4:c.904C>T MANE Select | NP_055610.1:p.Arg302Ter | |
| NM_001171653.2:c.832C>T | NP_001165124.1:p.Arg278Ter |