Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75003281T= , CM000676.2:g.75003281T= | GRCh38 |
| NC_000014.8:g.75469984T= , CM000676.1:g.75469984T= | GRCh37 |
| NC_000014.7:g.74539737T= | NCBI36 |
| NG_013333.1:g.5373T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.170T= MANE Select | ENSP00000266126.5:p.Leu57= | |
| ENST00000266126.9:c.170T= | ENSP00000266126.5:p.Leu57= | |
| ENST00000553401.5:c.143T= | ENSP00000451681.1:p.Leu48= | |
| ENST00000553539.1:n.310T= | ||
| ENST00000555522.1:n.228T= | ||
| ENST00000556028.5:c.170T= | ENSP00000452311.1:p.Leu57= | |
| NM_014239.3:c.170T= | NP_055054.1:p.Leu57= | |
| NM_014239.4:c.170T= MANE Select | NP_055054.1:p.Leu57= |