Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028075A>T , CM000666.2:g.52028075A>T | GRCh38 |
| NC_000004.11:g.52894241A>T , CM000666.1:g.52894241A>T | GRCh37 |
| NC_000004.10:g.52588998A>T | NCBI36 |
| NG_008891.1:g.15245T>A , LRG_204:g.15245T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.646T>A MANE Select | ENSP00000370839.6:p.Leu216Ile | |
| ENST00000381431.9:c.646T>A | ENSP00000370839.5:p.Leu216Ile | |
| NM_000232.4:c.646T>A , LRG_204t1:c.646T>A | NP_000223.1:p.Leu216Ile | |
| XM_006714049.2:c.349T>A | XP_006714112.1:p.Leu117Ile | |
| XM_011534403.1:c.436T>A | XP_011532705.1:p.Leu146Ile | |
| XM_011534404.1:c.349T>A | XP_011532706.1:p.Leu117Ile | |
| NM_000232.5:c.646T>A MANE Select | NP_000223.1:p.Leu216Ile |