Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6318562C>A , CM000668.2:g.6318562C>A | GRCh38 |
| NC_000006.11:g.6318795C>A , CM000668.1:g.6318795C>A | GRCh37 |
| NC_000006.10:g.6263794C>A | NCBI36 |
| NG_008107.1:g.7130G>T , LRG_549:g.7130G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000129.4:c.103G>T MANE Select | NP_000120.2:p.Val35Leu |
| ENST00000264870.8:c.103G>T MANE Select | ENSP00000264870.3:p.Val35Leu |
| NM_000129.3:c.103G>T , LRG_549t1:c.103G>T | NP_000120.2:p.Val35Leu |
| ENST00000264870.7:c.103G>T | ENSP00000264870.3:p.Val35Leu |
| ENST00000414279.5:c.103G>T | ENSP00000413334.1:p.Val35Leu |
| ENST00000431222.6:c.265G>T | ENSP00000416295.2:p.Val89Leu |
| ENST00000451619.1:c.177G>T | |
| XM_006715010.2:c.103G>T | XP_006715073.1:p.Val35Leu |
| XM_011514342.1:c.265G>T | XP_011512644.1:p.Val89Leu |