Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529027C= , CM000681.2:g.7529027C= | GRCh38 |
| NC_000019.9:g.7593913C= , CM000681.1:g.7593913C= | GRCh37 |
| NC_000019.8:g.7499913C= | NCBI36 |
| NG_015806.1:g.11418C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1134+57C= MANE Select | ENSP00000264079.5:n.1134+57C= | |
| ENST00000264079.10:c.1134+57C= | ENSP00000264079.5:n.1134+57C= | |
| ENST00000394321.9:n.1449+57C= | ||
| ENST00000594692.1:n.57C= | ||
| ENST00000595860.5:n.317+57C= | ||
| ENST00000599334.1:c.11+57C= | ||
| NM_020533.2:c.1134+57C= | NP_065394.1:n.1134+57C= | |
| NM_020533.3:c.1134+57C= MANE Select | NP_065394.1:n.1134+57C= |