Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528932A= , CM000681.2:g.7528932A= | GRCh38 |
| NC_000019.9:g.7593818A= , CM000681.1:g.7593818A= | GRCh37 |
| NC_000019.8:g.7499818A= | NCBI36 |
| NG_015806.1:g.11323A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1096A= MANE Select | ENSP00000264079.5:p.Ile366= | |
| ENST00000264079.10:c.1096A= | ENSP00000264079.5:p.Ile366= | |
| ENST00000394321.9:n.1411A= | ||
| ENST00000595860.5:n.279A= | ||
| NM_020533.2:c.1096A= | NP_065394.1:p.Ile366= | |
| NM_020533.3:c.1096A= MANE Select | NP_065394.1:p.Ile366= |