Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528323C= , CM000681.2:g.7528323C= | GRCh38 |
| NC_000019.9:g.7593209C= , CM000681.1:g.7593209C= | GRCh37 |
| NC_000019.8:g.7499209C= | NCBI36 |
| NG_015806.1:g.10714C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.877+66C= MANE Select | ENSP00000264079.5:n.877+66C= | |
| ENST00000264079.10:c.877+66C= | ENSP00000264079.5:n.877+66C= | |
| ENST00000394321.9:n.1192+66C= | ||
| NM_020533.2:c.877+66C= | NP_065394.1:n.877+66C= | |
| NM_020533.3:c.877+66C= MANE Select | NP_065394.1:n.877+66C= |