Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50130514G= , CM000676.2:g.50130514G= | GRCh38 |
| NC_000014.8:g.50597232G= , CM000676.1:g.50597232G= | GRCh37 |
| NC_000014.7:g.49666982G= | NCBI36 |
| NG_051073.1:g.106180C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3324C= MANE Select | ENSP00000216373.5:p.Leu1108= | |
| ENST00000216373.9:c.3324C= | ENSP00000216373.5:p.Leu1108= | |
| ENST00000543680.5:c.3225C= | ENSP00000445328.1:p.Leu1075= | |
| NM_006939.2:c.3324C= | NP_008870.2:p.Leu1108= | |
| XM_005268021.1:c.3144C= | XP_005268078.1:p.Leu1048= | |
| XM_011537103.1:c.3285C= | XP_011535405.1:p.Leu1095= | |
| NM_006939.3:c.3324C= | NP_008870.2:p.Leu1108= | |
| NM_006939.4:c.3324C= MANE Select | NP_008870.2:p.Leu1108= |