Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125449G= , CM000665.2:g.49125449G= | GRCh38 |
| NC_000003.11:g.49162882G= , CM000665.1:g.49162882G= | GRCh37 |
| NC_000003.10:g.49137886G= | NCBI36 |
| NG_008094.1:g.12718C= | |
| NG_054716.1:g.490C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2524C= MANE Select | ENSP00000307156.4:p.Leu842= | |
| ENST00000305544.8:c.2524C= | ENSP00000307156.4:p.Leu842= | |
| ENST00000418109.5:c.2524C= | ENSP00000388325.1:p.Leu842= | |
| ENST00000464891.5:n.273C= | ||
| ENST00000477701.1:n.397C= | ||
| ENST00000483057.1:n.124C= | ||
| ENST00000486298.5:n.426-280C= | ||
| NM_002292.3:c.2524C= | NP_002283.3:p.Leu842= | |
| XM_005265127.3:c.2524C= | XP_005265184.1:p.Leu842= | |
| XM_005265127.4:c.2524C= | XP_005265184.1:p.Leu842= | |
| NM_002292.4:c.2524C= MANE Select | NP_002283.3:p.Leu842= |