Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969470G= , CM000685.2:g.154969470G= | GRCh38 |
| NC_000023.10:g.154197745G= , CM000685.1:g.154197745G= | GRCh37 |
| NC_000023.9:g.153850939G= | NCBI36 |
| NG_011403.1:g.58254C= | |
| NG_011403.2:g.58254C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.870C= MANE Select | ENSP00000353393.4:p.Leu290= | |
| ENST00000647125.1:c.*746C= | ENSP00000496062.1:n.*746C= | |
| ENST00000360256.8:c.870C= | ENSP00000353393.4:p.Leu290= | |
| NM_000132.3:c.870C= | NP_000123.1:p.Leu290= | |
| XM_011531126.1:c.765C= | XP_011529428.1:p.Leu255= | |
| NM_000132.4:c.870C= MANE Select | NP_000123.1:p.Leu290= |