Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722048G= , CM000668.2:g.42722048G= | GRCh38 |
| NC_000006.11:g.42689786G= , CM000668.1:g.42689786G= | GRCh37 |
| NC_000006.10:g.42797764G= | NCBI36 |
| NG_009176.1:g.5573C= | |
| NG_009176.2:g.5573C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.287C= MANE Select | ENSP00000230381.5:p.Pro96= | |
| ENST00000230381.6:c.287C= | ENSP00000230381.5:p.Pro96= | |
| NM_000322.4:c.287C= | NP_000313.2:p.Pro96= | |
| XR_427834.2:n.942C= | ||
| XR_926295.1:n.942C= | ||
| XR_427834.4:n.992C= | ||
| XR_926295.3:n.992C= | ||
| NM_000322.5:c.287C= MANE Select | NP_000313.2:p.Pro96= |