Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52024149G>A , CM000666.2:g.52024149G>A | GRCh38 |
| NC_000004.11:g.52890315G>A , CM000666.1:g.52890315G>A | GRCh37 |
| NC_000004.10:g.52585072G>A | NCBI36 |
| NG_008891.1:g.19171C>T , LRG_204:g.19171C>T | |
| NG_053164.1:g.1163C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.765C>T MANE Select | NP_000223.1:p.Ile255= |
| ENST00000381431.10:c.765C>T MANE Select | ENSP00000370839.6:p.Ile255= |
| NM_000232.4:c.765C>T , LRG_204t1:c.765C>T | NP_000223.1:p.Ile255= |
| ENST00000381431.9:c.765C>T | ENSP00000370839.5:p.Ile255= |
| XM_006714049.2:c.468C>T | XP_006714112.1:p.Ile156= |
| XM_011534403.1:c.555C>T | XP_011532705.1:p.Ile185= |
| XM_011534404.1:c.468C>T | XP_011532706.1:p.Ile156= |