Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63482649G= , CM000679.2:g.63482649G= | GRCh38 |
| NC_000017.10:g.61560010G= , CM000679.1:g.61560010G= | GRCh37 |
| NC_000017.9:g.58913742G= | NCBI36 |
| NG_011648.1:g.10577G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.1302G= MANE Select | ENSP00000290866.4:p.Leu434= | |
| ENST00000290866.9:c.1302G= | ENSP00000290866.4:p.Leu434= | |
| ENST00000428043.5:c.1302G= | ENSP00000397593.2:p.Leu434= | |
| ENST00000582678.5:c.*701G= | ENSP00000462995.1:n.*701G= | |
| ENST00000584529.5:n.1336G= | ||
| NM_000789.3:c.1302G= | NP_000780.1:p.Leu434= | |
| XM_005257110.1:c.753G= | XP_005257167.1:p.Leu251= | |
| NM_000789.4:c.1302G= MANE Select | NP_000780.1:p.Leu434= | |
| NM_001382700.1:c.735G= | NP_001369629.1:p.Leu245= | |
| NM_001382701.1:c.450G= | NP_001369630.1:p.Leu150= |