Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.[94942290C=;94981296A>C] , CM000672.2:g.[94942290C=;94981296A>C] | GRCh38 |
| NC_000010.10:g.[96702047C=;96741053A>C] , CM000672.1:g.[96702047C=;96741053A>C] | GRCh37 |
| NC_000010.9:g.[96692037C=;96731043A>C] | NCBI36 |
| NG_008385.1:g.[8633C=;47639A>C] | |
| NG_008385.2:g.[9133C=;48139A>C] |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.[430C=;1075A>C] MANE Select | ENSP00000260682.6:p.[Arg144=;Ile359Leu] | |
| ENST00000643112.1:c.[430C=;*84A>C] | ENSP00000496202.1:[p.Arg144=;n.*84A>C] | |
| ENST00000260682.6:c.[430C=;1075A>C] | ENSP00000260682.6:p.[Arg144=;Ile359Leu] | |
| NM_000771.3:c.[430C=;1075A>C] | NP_000762.2:p.[Arg144=;Ile359Leu] | |
| NM_000771.4:c.[430C=;1075A>C] MANE Select | NP_000762.2:p.[Arg144=;Ile359Leu] |