Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142954274G= , CM000669.2:g.142954274G= | GRCh38 |
| NC_000007.13:g.142651361G= , CM000669.1:g.142651361G= | GRCh37 |
| NC_000007.12:g.142361483G= | NCBI36 |
| NG_007492.1:g.13143C= | |
| NG_007492.2:g.13143C= | |
| NG_007492.3:g.13143C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.834C= MANE Select | ENSP00000347409.2:p.Ile278= | |
| ENST00000355265.6:c.834C= | ENSP00000347409.2:p.Ile278= | |
| ENST00000479768.6:n.952C= | ||
| NM_000420.2:c.834C= | NP_000411.1:p.Ile278= | |
| XM_005249993.2:c.870C= | XP_005250050.1:p.Ile290= | |
| XM_005249994.3:c.-114C= | XP_005250051.1:n.-114C= | |
| NM_000420.3:c.834C= MANE Select | NP_000411.1:p.Ile278= |