Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13492503T= , CM000673.2:g.13492503T= | GRCh38 |
| NC_000011.9:g.13514050T= , CM000673.1:g.13514050T= | GRCh37 |
| NC_000011.8:g.13470626T= | NCBI36 |
| NG_008962.1:g.8518A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282091.6:c.250A= MANE Select | ENSP00000282091.1:p.Lys84= | |
| ENST00000282091.5:c.250A= | ENSP00000282091.1:p.Lys84= | |
| ENST00000529816.1:c.250A= | ENSP00000433208.1:p.Lys84= | |
| NM_000315.2:c.250A= | NP_000306.1:p.Lys84= | |
| NM_000315.3:c.250A= | NP_000306.1:p.Lys84= | |
| NM_001316352.1:c.346A= | NP_001303281.1:p.Lys116= | |
| NM_000315.4:c.250A= MANE Select | NP_000306.1:p.Lys84= | |
| NM_001316352.2:c.346A= | NP_001303281.1:p.Lys116= |