Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529007C= , CM000681.2:g.7529007C= | GRCh38 |
| NC_000019.9:g.7593893C= , CM000681.1:g.7593893C= | GRCh37 |
| NC_000019.8:g.7499893C= | NCBI36 |
| NG_015806.1:g.11398C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1134+37C= MANE Select | ENSP00000264079.5:n.1134+37C= | |
| ENST00000264079.10:c.1134+37C= | ENSP00000264079.5:n.1134+37C= | |
| ENST00000394321.9:n.1449+37C= | ||
| ENST00000594692.1:n.37C= | ||
| ENST00000595860.5:n.317+37C= | ||
| ENST00000599334.1:c.11+37C= | ||
| NM_020533.2:c.1134+37C= | NP_065394.1:n.1134+37C= | |
| NM_020533.3:c.1134+37C= MANE Select | NP_065394.1:n.1134+37C= |