Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68157629C= , CM000674.2:g.68157629C= | GRCh38 |
| NC_000012.11:g.68551409C= , CM000674.1:g.68551409C= | GRCh37 |
| NC_000012.10:g.66837676C= | NCBI36 |
| NG_015840.1:g.7113G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000619.3:c.366+284G= MANE Select | NP_000610.2:n.366+284G= |
| ENST00000229135.4:c.366+284G= MANE Select | ENSP00000229135.3:n.366+284G= |
| NM_000619.2:c.366+284G= | NP_000610.2:n.366+284G= |
| ENST00000229135.3:c.366+284G= | ENSP00000229135.3:n.366+284G= |