Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.103045378G= , CM000675.2:g.103045378G= | GRCh38 |
| NC_000013.10:g.103697728G= , CM000675.1:g.103697728G= | GRCh37 |
| NC_000013.9:g.102495729G= | NCBI36 |
| NG_016648.1:g.26469C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000452.3:c.*755C= MANE Select | NP_000443.2:n.*755C= |
| ENST00000245312.5:c.*755C= MANE Select | ENSP00000245312.3:n.*755C= |
| NM_000452.2:c.*755C= | NP_000443.1:n.*755C= |
| ENST00000245312.4:c.*755C= | ENSP00000245312.3:n.*755C= |