Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071060G= , CM000664.2:g.38071060G= | GRCh38 |
| NG_008386.2:g.10042C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000104.4:c.1294C= MANE Select | NP_000095.2:p.Leu432= |
| ENST00000610745.5:c.1294C= MANE Select | ENSP00000478561.1:p.Leu432= |
| NM_000104.3:c.1294C= | NP_000095.2:p.Leu432= |
| ENST00000490576.2:c.1294C= | ENSP00000478839.2:p.Leu432= |
| ENST00000492443.1:n.672C= | |
| ENST00000494864.1:c.181C= | ENSP00000479876.1:p.Leu61= |
| ENST00000610745.4:c.1294C= | ENSP00000478561.1:p.Leu432= |
| ENST00000614273.1:c.1294C= | ENSP00000483678.1:p.Leu432= |