Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49123179G= , CM000665.2:g.49123179G= | GRCh38 |
| NC_000003.11:g.49160612G= , CM000665.1:g.49160612G= | GRCh37 |
| NC_000003.10:g.49135616G= | NCBI36 |
| NG_008094.1:g.14988C= | |
| NG_054716.1:g.2760C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002292.4:c.4177C= MANE Select | NP_002283.3:p.Leu1393= |
| ENST00000305544.9:c.4177C= MANE Select | ENSP00000307156.4:p.Leu1393= |
| NM_002292.3:c.4177C= | NP_002283.3:p.Leu1393= |
| ENST00000305544.8:c.4177C= | ENSP00000307156.4:p.Leu1393= |
| ENST00000418109.5:c.4177C= | ENSP00000388325.1:p.Leu1393= |
| ENST00000469665.1:n.407C= | |
| XM_005265127.3:c.4177C= | XP_005265184.1:p.Leu1393= |
| XM_005265127.4:c.4177C= | XP_005265184.1:p.Leu1393= |