Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533801C= , CM000681.2:g.7533801C= | GRCh38 |
| NC_000019.9:g.7598687C= , CM000681.1:g.7598687C= | GRCh37 |
| NC_000019.8:g.7504687C= | NCBI36 |
| NG_013374.1:g.4650C= | |
| NG_015806.1:g.16192C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*6C= MANE Select | ENSP00000264079.5:n.*6C= | |
| ENST00000264079.10:c.*6C= | ENSP00000264079.5:n.*6C= | |
| ENST00000394321.9:n.2064C= | ||
| ENST00000599334.1:c.477C= | ||
| ENST00000601870.1:c.102C= | ||
| ENST00000602227.1:n.303C= | ||
| NM_020533.2:c.*6C= | NP_065394.1:n.*6C= | |
| NM_020533.3:c.*6C= MANE Select | NP_065394.1:n.*6C= |