Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72008783A= , CM000678.2:g.72008783A= | GRCh38 |
| NC_000016.9:g.72042682A= , CM000678.1:g.72042682A= | GRCh37 |
| NC_000016.8:g.70600183A= | NCBI36 |
| NG_016271.1:g.5040A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001361.5:c.19A= MANE Select | NP_001352.2:p.Lys7= |
| ENST00000219240.9:c.19A= MANE Select | ENSP00000219240.4:p.Lys7= |
| NM_001361.4:c.19A= | NP_001352.2:p.Lys7= |
| ENST00000219240.8:c.19A= | ENSP00000219240.4:p.Lys7= |
| ENST00000571288.6:c.6A= | |
| ENST00000572887.5:c.19A= | ENSP00000461848.1:p.Lys7= |
| ENST00000574309.5:c.15A= | |
| XM_017022990.2:c.-410A= | XP_016878479.1:n.-410A= |