Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716725G= , CM000667.2:g.14716725G= | GRCh38 |
| NC_000005.9:g.14716834G= , CM000667.1:g.14716834G= | GRCh37 |
| NC_000005.8:g.14769834G= | NCBI36 |
| NG_008273.1:g.160054C= | |
| NG_008273.2:g.160061C= | |
| NG_051625.1:g.60932G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1122C= MANE Select | ENSP00000284268.6:p.Phe374= | |
| ENST00000284268.6:c.1122C= | ENSP00000284268.6:p.Phe374= | |
| ENST00000502585.1:n.364C= | ||
| NM_054027.4:c.1122C= | NP_473368.1:p.Phe374= | |
| NM_054027.5:c.1122C= | NP_473368.1:p.Phe374= | |
| XM_017009644.2:c.1038C= | XP_016865133.1:p.Phe346= | |
| NM_054027.6:c.1122C= MANE Select | NP_473368.1:p.Phe374= |