Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33301466G>A , CM000681.2:g.33301466G>A | GRCh38 |
| NC_000019.9:g.33792372G>A , CM000681.1:g.33792372G>A | GRCh37 |
| NC_000019.8:g.38484212G>A | NCBI36 |
| NG_012022.1:g.6059C>T , LRG_456:g.6059C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004364.5:c.949C>T MANE Select | NP_004355.2:p.Leu317= |
| ENST00000498907.3:c.949C>T MANE Select | ENSP00000427514.1:p.Leu317= |
| NM_001285829.1:c.592C>T | NP_001272758.1:p.Leu198= |
| NM_001285829.2:c.592C>T | NP_001272758.1:p.Leu198= |
| NM_001287424.1:c.1054C>T | NP_001274353.1:p.Leu352= |
| NM_001287424.2:c.1054C>T | NP_001274353.1:p.Leu352= |
| NM_001287435.1:c.907C>T | NP_001274364.1:p.Leu303= |
| NM_001287435.2:c.907C>T | NP_001274364.1:p.Leu303= |
| NM_004364.4:c.949C>T | NP_004355.2:p.Leu317= |
| ENST00000498907.2:c.949C>T | ENSP00000427514.1:p.Leu317= |