Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887134T= , CM000681.2:g.12887134T= | GRCh38 |
| NC_000019.9:g.12997948T= , CM000681.1:g.12997948T= | GRCh37 |
| NC_000019.8:g.12858948T= | NCBI36 |
| NG_009292.1:g.975T= | |
| NG_013087.1:g.5070A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.7A= MANE Select | ENSP00000264834.3:p.Thr3= | |
| ENST00000264834.4:c.7A= | ENSP00000264834.3:p.Thr3= | |
| NM_006563.3:c.7A= | NP_006554.1:p.Thr3= | |
| NM_006563.4:c.7A= | NP_006554.1:p.Thr3= | |
| NM_006563.5:c.7A= MANE Select | NP_006554.1:p.Thr3= |