Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940360G= , CM000678.2:g.67940360G= | GRCh38 |
| NC_000016.9:g.67974263G= , CM000678.1:g.67974263G= | GRCh37 |
| NC_000016.8:g.66531764G= | NCBI36 |
| NG_009778.1:g.8753C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.867C= MANE Select | ENSP00000264005.5:p.Phe289= | |
| ENST00000264005.9:c.867C= | ENSP00000264005.5:p.Phe289= | |
| ENST00000570369.5:c.156-286C= | ||
| ENST00000570980.1:c.651C= | ENSP00000464651.1:p.Phe217= | |
| ENST00000573538.5:c.605C= | ENSP00000463220.1:n.605C= | |
| NM_000229.1:c.867C= | NP_000220.1:p.Phe289= | |
| NM_000229.2:c.867C= MANE Select | NP_000220.1:p.Phe289= |