Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722293G= , CM000668.2:g.42722293G= | GRCh38 |
| NC_000006.11:g.42690031G= , CM000668.1:g.42690031G= | GRCh37 |
| NC_000006.10:g.42798009G= | NCBI36 |
| NG_009176.1:g.5328C= | |
| NG_009176.2:g.5328C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.42C= MANE Select | ENSP00000230381.5:p.Val14= | |
| ENST00000230381.6:c.42C= | ENSP00000230381.5:p.Val14= | |
| NM_000322.4:c.42C= | NP_000313.2:p.Val14= | |
| XR_427834.2:n.697C= | ||
| XR_926295.1:n.697C= | ||
| XR_427834.4:n.747C= | ||
| XR_926295.3:n.747C= | ||
| NM_000322.5:c.42C= MANE Select | NP_000313.2:p.Val14= |