Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225361G= , CM000668.2:g.3225361G= | GRCh38 |
| NC_000006.11:g.3225595G= , CM000668.1:g.3225595G= | GRCh37 |
| NC_000006.10:g.3170594G= | NCBI36 |
| NG_016715.1:g.7374C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.728C= MANE Select | ENSP00000259818.6:p.Pro243= | |
| ENST00000680070.1:n.1658C= | ||
| ENST00000681707.1:n.1555C= | ||
| ENST00000681757.1:n.1033C= | ||
| ENST00000259818.7:c.728C= | ENSP00000259818.6:p.Pro243= | |
| ENST00000473006.1:n.845C= | ||
| NM_178012.4:c.728C= | NP_821080.1:p.Pro243= | |
| XM_011514571.1:c.512C= | XP_011512873.1:p.Pro171= | |
| NM_178012.5:c.728C= MANE Select | NP_821080.1:p.Pro243= |