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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.[153693944C>G;153694141G>A] , CM000685.2:g.[153693944C>G;153694141G>A] | GRCh38 |
| NC_000023.10:g.[152959399C>G;152959596G>A] , CM000685.1:g.[152959399C>G;152959596G>A] | GRCh37 |
| NC_000023.9:g.[152612593C>G;152612790G>A] | NCBI36 |
| NG_012016.1:g.[10648C>G;10845G>A] | |
| NG_012016.2:g.[10648C>G;10845G>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.[1181C>G;1266G>A] MANE Select | ENSP00000253122.5:p.[Thr394Arg;Val422=] | |
| ENST00000253122.9:c.[1181C>G;1266G>A] | ENSP00000253122.5:p.[Thr394Arg;Val422=] | |
| ENST00000413787.1:c.[258-260C>G;258-63G>A] | ENSP00000400463.1:n.[258-260C>G;258-63G>A] | |
| ENST00000430077.6:c.[836C>G;921G>A] | ENSP00000403041.2:p.[Thr279Arg;Val307=] | |
| ENST00000442457.1:c.[235C>G;320G>A] | ||
| ENST00000457723.1:c.[165C>G;243G>A] | ENSP00000394742.1:p.[His55Gln;Val81=] | |
| ENST00000485324.1:n.[1214C>G;1411G>A] | ||
| NM_001142805.1:c.[1151C>G;1236G>A] | NP_001136277.1:p.[Thr384Arg;Val412=] | |
| NM_001142806.1:c.[836C>G;921G>A] | NP_001136278.1:p.[Thr279Arg;Val307=] | |
| NM_005629.3:c.[1181C>G;1266G>A] | NP_005620.1:p.[Thr394Arg;Val422=] | |
| NM_005629.4:c.[1181C>G;1266G>A] MANE Select | NP_005620.1:p.[Thr394Arg;Val422=] | |
| NM_001142805.2:c.[1151C>G;1236G>A] | NP_001136277.1:p.[Thr384Arg;Val412=] |