Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30723190C>T , CM000678.2:g.30723190C>T | GRCh38 |
| NC_000016.9:g.30734511C>T , CM000678.1:g.30734511C>T | GRCh37 |
| NC_000016.8:g.30642012C>T | NCBI36 |
| NG_032135.1:g.29050C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006662.3:c.4120C>T MANE Select | NP_006653.2:p.Leu1374Phe |
| ENST00000262518.9:c.4120C>T MANE Select | ENSP00000262518.4:p.Leu1374Phe |
| NM_006662.2:c.4120C>T | NP_006653.2:p.Leu1374Phe |
| ENST00000262518.8:c.4120C>T | ENSP00000262518.4:p.Leu1374Phe |
| ENST00000380361.7:c.3589C>T | ENSP00000369719.3:p.Leu1197Phe |
| ENST00000395059.6:c.3343C>T | ENSP00000378499.3:p.Leu1115Phe |
| ENST00000411466.7:c.4120C>T | ENSP00000405186.3:p.Leu1374Phe |
| ENST00000483083.3:c.3219C>T | |
| ENST00000706321.1:c.4120C>T | ENSP00000516346.1:p.Leu1374Phe |