Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716780A= , CM000667.2:g.14716780A= | GRCh38 |
| NC_000005.9:g.14716889A= , CM000667.1:g.14716889A= | GRCh37 |
| NC_000005.8:g.14769889A= | NCBI36 |
| NG_008273.1:g.159999T= | |
| NG_008273.2:g.160006T= | |
| NG_051625.1:g.60987A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1067T= MANE Select | ENSP00000284268.6:p.Ile356= | |
| ENST00000284268.6:c.1067T= | ENSP00000284268.6:p.Ile356= | |
| ENST00000502585.1:n.309T= | ||
| NM_054027.4:c.1067T= | NP_473368.1:p.Ile356= | |
| NM_054027.5:c.1067T= | NP_473368.1:p.Ile356= | |
| XM_017009644.2:c.983T= | XP_016865133.1:p.Ile328= | |
| NM_054027.6:c.1067T= MANE Select | NP_473368.1:p.Ile356= |