Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154860520A= , CM000685.2:g.154860520A= | GRCh38 |
| NC_000023.10:g.154088795A= , CM000685.1:g.154088795A= | GRCh37 |
| NC_000023.9:g.153741989A= | NCBI36 |
| NG_011403.1:g.167204T= | |
| NG_011403.2:g.167204T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6812T= MANE Select | ENSP00000353393.4:p.Leu2271= | |
| ENST00000644698.1:c.545T= | ENSP00000495706.1:p.Leu182= | |
| ENST00000330287.10:c.407T= | ENSP00000327895.6:p.Leu136= | |
| ENST00000360256.8:c.6812T= | ENSP00000353393.4:p.Leu2271= | |
| NM_000132.3:c.6812T= | NP_000123.1:p.Leu2271= | |
| NM_019863.2:c.407T= | NP_063916.1:p.Leu136= | |
| XM_011531126.1:c.6707T= | XP_011529428.1:p.Leu2236= | |
| NM_000132.4:c.6812T= MANE Select | NP_000123.1:p.Leu2271= | |
| NM_019863.3:c.407T= | NP_063916.1:p.Leu136= |