Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128344411A= , CM000667.2:g.128344411A= | GRCh38 |
| NC_000005.9:g.127680103A= , CM000667.1:g.127680103A= | GRCh37 |
| NC_000005.8:g.127708002A= | NCBI36 |
| NG_008750.1:g.198633T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.3317T= MANE Select | ENSP00000262464.4:p.Leu1106= | |
| ENST00000262464.8:c.3317T= | ENSP00000262464.4:p.Leu1106= | |
| ENST00000508053.5:c.3317T= | ENSP00000424571.1:p.Leu1106= | |
| ENST00000508989.5:c.3218T= | ENSP00000425596.1:p.Leu1073= | |
| ENST00000619499.4:c.3314T= | ENSP00000482132.1:p.Leu1105= | |
| NM_001999.3:c.3317T= | NP_001990.2:p.Leu1106= | |
| XM_017009228.2:c.3164T= | XP_016864717.1:p.Leu1055= | |
| NM_001999.4:c.3317T= MANE Select | NP_001990.2:p.Leu1106= |