Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3589794G>A , CM000678.2:g.3589794G>A | GRCh38 |
| NC_000016.9:g.3639795G>A , CM000678.1:g.3639795G>A | GRCh37 |
| NC_000016.8:g.3579796G>A | NCBI36 |
| NG_028123.1:g.26791C>T , LRG_503:g.26791C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032444.4:c.3844C>T MANE Select | NP_115820.2:p.Leu1282= |
| ENST00000294008.4:c.3844C>T MANE Select | ENSP00000294008.3:p.Leu1282= |
| NM_032444.2:c.3844C>T , LRG_503t1:c.3844C>T | NP_115820.2:p.Leu1282= |
| NM_032444.3:c.3844C>T | NP_115820.2:p.Leu1282= |
| ENST00000294008.3:c.3844C>T | ENSP00000294008.3:p.Leu1282= |
| XM_011522715.1:c.3844C>T | XP_011521017.1:p.Leu1282= |
| XM_011522715.3:c.3844C>T | XP_011521017.1:p.Leu1282= |
| XM_017023775.2:c.3022C>T | XP_016879264.1:p.Leu1008= |
| XM_024450471.1:c.3844C>T | XP_024306239.1:p.Leu1282= |