Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425461A= , CM000664.2:g.84425461A= | GRCh38 |
| NC_000002.11:g.84652585A= , CM000664.1:g.84652585A= | GRCh37 |
| NC_000002.10:g.84506096A= | NCBI36 |
| NG_016755.1:g.39002T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.968T= MANE Select | ENSP00000377446.2:p.Val323= | |
| ENST00000651342.1:c.*408T= | ENSP00000498471.1:n.*408T= | |
| ENST00000393868.6:c.968T= | ENSP00000377446.2:p.Val323= | |
| ENST00000484365.1:n.1476T= | ||
| ENST00000487809.1:n.715T= | ||
| ENST00000491123.5:n.814T= | ||
| NM_003849.3:c.968T= | NP_003840.2:p.Val323= | |
| NM_003849.4:c.968T= MANE Select | NP_003840.2:p.Val323= |