Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40843760C= , CM000681.2:g.40843760C= | GRCh38 |
| NC_000019.9:g.41349665C= , CM000681.1:g.41349665C= | GRCh37 |
| NC_000019.8:g.46041505C= | NCBI36 |
| NG_008377.1:g.11688G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301141.10:c.*36G= MANE Select | ENSP00000301141.4:n.*36G= | |
| ENST00000301141.9:c.*36G= | ENSP00000301141.4:n.*36G= | |
| ENST00000599960.1:n.440G= | ||
| ENST00000601627.1:c.119+42345C= | ||
| NM_000762.5:c.*36G= | NP_000753.3:n.*36G= | |
| NM_000762.6:c.*36G= MANE Select | NP_000753.3:n.*36G= |