Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.[94942290C>T;94981296A=] , CM000672.2:g.[94942290C>T;94981296A=] | GRCh38 |
| NC_000010.10:g.[96702047C>T;96741053A=] , CM000672.1:g.[96702047C>T;96741053A=] | GRCh37 |
| NC_000010.9:g.[96692037C>T;96731043A=] | NCBI36 |
| NG_008385.1:g.[8633C>T;47639A=] | |
| NG_008385.2:g.[9133C>T;48139A=] |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.[430C>T;1075A=] MANE Select | ENSP00000260682.6:p.[Arg144Cys;Ile359=] | |
| ENST00000643112.1:c.[430C>T;*84A=] | ENSP00000496202.1:[p.Arg144Cys;n.*84A=] | |
| ENST00000260682.6:c.[430C>T;1075A=] | ENSP00000260682.6:p.[Arg144Cys;Ile359=] | |
| NM_000771.3:c.[430C>T;1075A=] | NP_000762.2:p.[Arg144Cys;Ile359=] | |
| NM_000771.4:c.[430C>T;1075A=] MANE Select | NP_000762.2:p.[Arg144Cys;Ile359=] |