Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816712G>A , CM000681.2:g.4816712G>A | GRCh38 |
| NC_000019.9:g.4816724G>A , CM000681.1:g.4816724G>A | GRCh37 |
| NC_000019.8:g.4767724G>A | NCBI36 |
| NG_031998.1:g.20031C>T , LRG_358:g.20031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1666C>T MANE Select | ENSP00000248244.4:p.Leu556= | |
| ENST00000248244.5:c.1666C>T | ENSP00000248244.4:p.Leu556= | |
| ENST00000621756.1:c.1249C>T | ENSP00000479467.1:p.Leu417= | |
| NM_182919.3:c.1666C>T , LRG_358t1:c.1666C>T | NP_891549.1:p.Leu556= | |
| NM_001385678.1:c.1624C>T | NP_001372607.1:p.Leu542= | |
| NM_001385679.1:c.1531C>T | NP_001372608.1:p.Leu511= | |
| NM_001385680.1:c.1024C>T | NP_001372609.1:p.Leu342= | |
| NM_182919.4:c.1666C>T MANE Select | NP_891549.1:p.Leu556= |