Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965589A= , CM000670.2:g.37965589A= | GRCh38 |
| NC_000008.10:g.37823107A= , CM000670.1:g.37823107A= | GRCh37 |
| NC_000008.9:g.37942264A= | NCBI36 |
| NG_011936.1:g.6078T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.881T= MANE Select | ENSP00000343782.3:p.Leu294= | |
| ENST00000520341.2:n.1009T= | ||
| ENST00000647937.1:c.365T= | ENSP00000497740.1:p.Leu122= | |
| ENST00000345060.4:c.881T= | ENSP00000343782.3:p.Leu294= | |
| ENST00000520341.1:n.156T= | ||
| ENST00000614635.1:c.881T= | ENSP00000480325.1:p.Leu294= | |
| NM_000025.2:c.881T= | NP_000016.1:p.Leu294= | |
| NM_000025.3:c.881T= MANE Select | NP_000016.1:p.Leu294= |