Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52027971C>T , CM000666.2:g.52027971C>T | GRCh38 |
| NC_000004.11:g.52894137C>T , CM000666.1:g.52894137C>T | GRCh37 |
| NC_000004.10:g.52588894C>T | NCBI36 |
| NG_008891.1:g.15349G>A , LRG_204:g.15349G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381431.10:c.750G>A MANE Select | ENSP00000370839.6:p.Lys250= | |
| ENST00000381431.9:c.750G>A | ENSP00000370839.5:p.Lys250= | |
| NM_000232.4:c.750G>A , LRG_204t1:c.750G>A | NP_000223.1:p.Lys250= | |
| XM_006714049.2:c.453G>A | XP_006714112.1:p.Lys151= | |
| XM_011534403.1:c.540G>A | XP_011532705.1:p.Lys180= | |
| XM_011534404.1:c.453G>A | XP_011532706.1:p.Lys151= | |
| NM_000232.5:c.750G>A MANE Select | NP_000223.1:p.Lys250= |