Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129206557C>T , CM000669.2:g.129206557C>T | GRCh38 |
| NC_000007.13:g.128846398C>T , CM000669.1:g.128846398C>T | GRCh37 |
| NC_000007.12:g.128633634C>T | NCBI36 |
| NG_023340.1:g.22686C>T | |
| NG_023340.2:g.22686C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005631.5:c.1234C>T MANE Select | NP_005622.1:p.Leu412Phe |
| ENST00000249373.8:c.1234C>T MANE Select | ENSP00000249373.3:p.Leu412Phe |
| NM_005631.4:c.1234C>T | NP_005622.1:p.Leu412Phe |
| ENST00000249373.7:c.1234C>T | ENSP00000249373.3:p.Leu412Phe |
| ENST00000462420.2:c.314C>T | |
| ENST00000495998.1:n.179C>T | |
| ENST00000655644.1:c.*1098C>T | ENSP00000499377.1:n.*1098C>T |
| XM_011516522.1:c.844C>T | XP_011514824.1:p.Leu282Phe |
| XM_024446891.1:c.844C>T | XP_024302659.1:p.Leu282Phe |