Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.103049340G= , CM000675.2:g.103049340G= | GRCh38 |
| NC_000013.10:g.103701690G= , CM000675.1:g.103701690G= | GRCh37 |
| NC_000013.9:g.102499691G= | NCBI36 |
| NG_016648.1:g.22507C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000452.3:c.868C= MANE Select | NP_000443.2:p.Pro290= |
| ENST00000245312.5:c.868C= MANE Select | ENSP00000245312.3:p.Pro290= |
| NM_000452.2:c.868C= | NP_000443.1:p.Pro290= |
| ENST00000245312.4:c.868C= | ENSP00000245312.3:p.Pro290= |