Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396068G>T , CM000671.2:g.38396068G>T | GRCh38 |
| NC_000009.11:g.38396065G>T , CM000671.1:g.38396065G>T | GRCh37 |
| NC_000009.10:g.38386065G>T | NCBI36 |
| NG_012253.1:g.8364G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000692.5:c.320G>T MANE Select | NP_000683.3:p.Arg107Leu |
| ENST00000377698.4:c.320G>T MANE Select | ENSP00000366927.3:p.Arg107Leu |
| NM_000692.4:c.320G>T | NP_000683.3:p.Arg107Leu |
| ENST00000377698.3:c.320G>T | ENSP00000366927.3:p.Arg107Leu |
| ENST00000635162.1:c.320G>T | ENSP00000489053.1:p.Arg107Leu |
| XM_011517802.1:c.320G>T | XP_011516104.1:p.Arg107Leu |
| XM_011517802.2:c.320G>T | XP_011516104.1:p.Arg107Leu |