Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251817G>T , CM000681.2:g.2251817G>T | GRCh38 |
| NC_000019.9:g.2251816G>T , CM000681.1:g.2251816G>T | GRCh37 |
| NC_000019.8:g.2202816G>T | NCBI36 |
| NG_012190.1:g.7704G>T | |
| NG_032853.1:g.9607C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1543G>T MANE Select | ENSP00000221496.2:p.Val515Phe | |
| ENST00000221496.4:c.1543G>T | ENSP00000221496.2:p.Val515Phe | |
| NM_000479.3:c.1543G>T | NP_000470.2:p.Ala515Ser | |
| NM_000479.4:c.1543G>T | NP_000470.2:p.Ala515Ser | |
| NM_000479.5:c.1543G>T MANE Select | NP_000470.3:p.Val515Phe |