Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4817016T= , CM000681.2:g.4817016T= | GRCh38 |
| NC_000019.9:g.4817028T= , CM000681.1:g.4817028T= | GRCh37 |
| NC_000019.8:g.4768028T= | NCBI36 |
| NG_031998.1:g.19727A= , LRG_358:g.19727A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1362A= MANE Select | ENSP00000248244.4:p.Leu454= | |
| ENST00000248244.5:c.1362A= | ENSP00000248244.4:p.Leu454= | |
| ENST00000621756.1:c.945A= | ENSP00000479467.1:p.Leu315= | |
| NM_182919.3:c.1362A= , LRG_358t1:c.1362A= | NP_891549.1:p.Leu454= | |
| NM_001385678.1:c.1320A= | NP_001372607.1:p.Leu440= | |
| NM_001385679.1:c.1227A= | NP_001372608.1:p.Leu409= | |
| NM_001385680.1:c.720A= | NP_001372609.1:p.Leu240= | |
| NM_182919.4:c.1362A= MANE Select | NP_891549.1:p.Leu454= |