Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716805C= , CM000667.2:g.14716805C= | GRCh38 |
| NC_000005.9:g.14716914C= , CM000667.1:g.14716914C= | GRCh37 |
| NC_000005.8:g.14769914C= | NCBI36 |
| NG_008273.1:g.159974G= | |
| NG_008273.2:g.159981G= | |
| NG_051625.1:g.61012C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1042G= MANE Select | ENSP00000284268.6:p.Val348= | |
| ENST00000284268.6:c.1042G= | ENSP00000284268.6:p.Val348= | |
| ENST00000502585.1:n.284G= | ||
| NM_054027.4:c.1042G= | NP_473368.1:p.Val348= | |
| NM_054027.5:c.1042G= | NP_473368.1:p.Val348= | |
| XM_017009644.2:c.958G= | XP_016865133.1:p.Val320= | |
| NM_054027.6:c.1042G= MANE Select | NP_473368.1:p.Val348= |