Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992558G= , CM000670.2:g.16992558G= | GRCh38 |
| NC_000008.10:g.16850067G= , CM000670.1:g.16850067G= | GRCh37 |
| NC_000008.9:g.16894438G= | NCBI36 |
| NG_015978.1:g.14608C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*514C= MANE Select | ENSP00000180166.5:n.*514C= | |
| ENST00000180166.5:c.*514C= | ENSP00000180166.5:n.*514C= | |
| NM_019851.3:c.*514C= MANE Select | NP_062825.1:n.*514C= |