Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525073T= , CM000681.2:g.7525073T= | GRCh38 |
| NC_000019.9:g.7589959T= , CM000681.1:g.7589959T= | GRCh37 |
| NC_000019.8:g.7495959T= | NCBI36 |
| NG_015806.1:g.7464T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.144T= MANE Select | ENSP00000264079.5:p.Phe48= | |
| ENST00000264079.10:c.144T= | ENSP00000264079.5:p.Phe48= | |
| ENST00000394321.9:n.224T= | ||
| ENST00000596390.1:n.260T= | ||
| ENST00000601003.1:c.144T= | ENSP00000469074.1:p.Phe48= | |
| NM_020533.2:c.144T= | NP_065394.1:p.Phe48= | |
| NM_020533.3:c.144T= MANE Select | NP_065394.1:p.Phe48= |