Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225818G= , CM000668.2:g.3225818G= | GRCh38 |
| NC_000006.11:g.3226052G= , CM000668.1:g.3226052G= | GRCh37 |
| NC_000006.10:g.3171051G= | NCBI36 |
| NG_016715.1:g.6917C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.278-7C= MANE Select | ENSP00000259818.6:n.278-7C= | |
| ENST00000680070.1:n.1208-7C= | ||
| ENST00000681707.1:n.1105-7C= | ||
| ENST00000681757.1:n.583-7C= | ||
| ENST00000259818.7:c.278-7C= | ENSP00000259818.6:n.278-7C= | |
| ENST00000473006.1:n.395-7C= | ||
| NM_178012.4:c.278-7C= | NP_821080.1:n.278-7C= | |
| XM_011514571.1:c.62-7C= | XP_011512873.1:n.62-7C= | |
| NM_178012.5:c.278-7C= MANE Select | NP_821080.1:n.278-7C= |