Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.984865T= , CM000671.2:g.984865T= | GRCh38 |
| NC_000009.11:g.984865T= , CM000671.1:g.984865T= | GRCh37 |
| NC_000009.10:g.974865T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021240.4:c.455-5176T= MANE Select | NP_067063.1:n.455-5176T= |
| ENST00000190165.3:c.455-5176T= MANE Select | ENSP00000190165.2:n.455-5176T= |
| NM_021240.3:c.455-5176T= | NP_067063.1:n.455-5176T= |
| ENST00000190165.2:c.455-5176T= | ENSP00000190165.2:n.455-5176T= |