Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432580G= , CM000663.2:g.229432580G= | GRCh38 |
| NC_000001.10:g.229568327G= , CM000663.1:g.229568327G= | GRCh37 |
| NC_000001.9:g.227634950G= | NCBI36 |
| NG_006672.1:g.6517C= , LRG_429:g.6517C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001100.4:c.430C= MANE Select | NP_001091.1:p.Leu144= |
| ENST00000366684.7:c.430C= MANE Select | ENSP00000355645.3:p.Leu144= |
| NM_001100.3:c.430C= , LRG_429t1:c.430C= | NP_001091.1:p.Leu144= |
| ENST00000366683.3:c.430C= | ENSP00000355644.3:p.Leu144= |
| ENST00000366683.4:c.430C= | ENSP00000355644.4:p.Leu144= |
| ENST00000684723.1:c.295C= | ENSP00000508084.1:p.Leu99= |