Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721959G= , CM000668.2:g.42721959G= | GRCh38 |
| NC_000006.11:g.42689697G= , CM000668.1:g.42689697G= | GRCh37 |
| NC_000006.10:g.42797675G= | NCBI36 |
| NG_009176.1:g.5662C= | |
| NG_009176.2:g.5662C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.376C= MANE Select | ENSP00000230381.5:p.Leu126= | |
| ENST00000230381.6:c.376C= | ENSP00000230381.5:p.Leu126= | |
| NM_000322.4:c.376C= | NP_000313.2:p.Leu126= | |
| XR_427834.2:n.1031C= | ||
| XR_926295.1:n.1031C= | ||
| XR_427834.4:n.1081C= | ||
| XR_926295.3:n.1081C= | ||
| NM_000322.5:c.376C= MANE Select | NP_000313.2:p.Leu126= |