Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48425394C= , CM000677.2:g.48425394C= | GRCh38 |
| NC_000015.9:g.48717591C= , CM000677.1:g.48717591C= | GRCh37 |
| NC_000015.8:g.46504883C= | NCBI36 |
| NG_008805.2:g.225395G= , LRG_778:g.225395G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*236G= | ENSP00000453958.2:n.*236G= | |
| ENST00000674301.2:c.*941G= | ENSP00000501333.2:n.*941G= | |
| ENST00000682170.1:n.1609G= | ||
| ENST00000682767.1:n.725G= | ||
| ENST00000316623.10:c.7428G= MANE Select | ENSP00000325527.5:p.Leu2476= | |
| ENST00000674301.1:c.2594G= | ENSP00000501333.1:n.2594G= | |
| ENST00000316623.9:c.7428G= | ENSP00000325527.5:p.Leu2476= | |
| ENST00000559133.5:c.2797G= | ||
| NM_000138.4:c.7428G= , LRG_778t1:c.7428G= | NP_000129.3:p.Leu2476= | |
| NM_000138.5:c.7428G= MANE Select | NP_000129.3:p.Leu2476= |