Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722199G= , CM000668.2:g.42722199G= | GRCh38 |
| NC_000006.11:g.42689937G= , CM000668.1:g.42689937G= | GRCh37 |
| NC_000006.10:g.42797915G= | NCBI36 |
| NG_009176.1:g.5422C= | |
| NG_009176.2:g.5422C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.136C= MANE Select | NP_000313.2:p.Arg46= |
| ENST00000230381.7:c.136C= MANE Select | ENSP00000230381.5:p.Arg46= |
| NM_000322.4:c.136C= | NP_000313.2:p.Arg46= |
| ENST00000230381.6:c.136C= | ENSP00000230381.5:p.Arg46= |
| XR_427834.2:n.791C= | |
| XR_427834.4:n.841C= | |
| XR_926295.1:n.791C= | |
| XR_926295.3:n.841C= |