Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20142394G= , CM000675.2:g.20142394G= | GRCh38 |
| NC_000013.10:g.20716533G= , CM000675.1:g.20716533G= | GRCh37 |
| NC_000013.9:g.19614533G= | NCBI36 |
| NG_016399.1:g.23651C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021954.4:c.895C= MANE Select | NP_068773.2:p.Leu299= |
| ENST00000241125.4:c.895C= MANE Select | ENSP00000241125.3:p.Leu299= |
| NM_021954.3:c.895C= | NP_068773.2:p.Leu299= |
| ENST00000241125.3:c.895C= | ENSP00000241125.3:p.Leu299= |
| XM_005266353.1:c.895C= | XP_005266410.1:p.Leu299= |
| XM_011535048.1:c.895C= | XP_011533350.1:p.Leu299= |
| XM_011535048.2:c.895C= | XP_011533350.1:p.Leu299= |