Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33301445G>A , CM000681.2:g.33301445G>A | GRCh38 |
| NC_000019.9:g.33792351G>A , CM000681.1:g.33792351G>A | GRCh37 |
| NC_000019.8:g.38484191G>A | NCBI36 |
| NG_012022.1:g.6080C>T , LRG_456:g.6080C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.970C>T MANE Select | ENSP00000427514.1:p.Leu324= | |
| ENST00000498907.2:c.970C>T | ENSP00000427514.1:p.Leu324= | |
| NM_001285829.1:c.613C>T | NP_001272758.1:p.Leu205= | |
| NM_001287424.1:c.1075C>T | NP_001274353.1:p.Leu359= | |
| NM_001287435.1:c.928C>T | NP_001274364.1:p.Leu310= | |
| NM_004364.4:c.970C>T | NP_004355.2:p.Leu324= | |
| NM_001287424.2:c.1075C>T | NP_001274353.1:p.Leu359= | |
| NM_004364.5:c.970C>T MANE Select | NP_004355.2:p.Leu324= | |
| NM_001285829.2:c.613C>T | NP_001272758.1:p.Leu205= | |
| NM_001287435.2:c.928C>T | NP_001274364.1:p.Leu310= |