Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40843747G= , CM000681.2:g.40843747G= | GRCh38 |
| NC_000019.9:g.41349652G= , CM000681.1:g.41349652G= | GRCh37 |
| NC_000019.8:g.46041492G= | NCBI36 |
| NG_008377.1:g.11701C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301141.10:c.*49C= MANE Select | ENSP00000301141.4:n.*49C= | |
| ENST00000301141.9:c.*49C= | ENSP00000301141.4:n.*49C= | |
| ENST00000599960.1:n.453C= | ||
| ENST00000601627.1:c.119+42332G= | ||
| NM_000762.5:c.*49C= | NP_000753.3:n.*49C= | |
| NM_000762.6:c.*49C= MANE Select | NP_000753.3:n.*49C= |