Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529014G= , CM000681.2:g.7529014G= | GRCh38 |
| NC_000019.9:g.7593900G= , CM000681.1:g.7593900G= | GRCh37 |
| NC_000019.8:g.7499900G= | NCBI36 |
| NG_015806.1:g.11405G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1134+44G= MANE Select | ENSP00000264079.5:n.1134+44G= | |
| ENST00000264079.10:c.1134+44G= | ENSP00000264079.5:n.1134+44G= | |
| ENST00000394321.9:n.1449+44G= | ||
| ENST00000594692.1:n.44G= | ||
| ENST00000595860.5:n.317+44G= | ||
| ENST00000599334.1:c.11+44G= | ||
| NM_020533.2:c.1134+44G= | NP_065394.1:n.1134+44G= | |
| NM_020533.3:c.1134+44G= MANE Select | NP_065394.1:n.1134+44G= |