Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721838C= , CM000668.2:g.42721838C= | GRCh38 |
| NC_000006.11:g.42689576C= , CM000668.1:g.42689576C= | GRCh37 |
| NC_000006.10:g.42797554C= | NCBI36 |
| NG_009176.1:g.5783G= | |
| NG_009176.2:g.5783G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.497G= MANE Select | ENSP00000230381.5:p.Cys166= | |
| ENST00000230381.6:c.497G= | ENSP00000230381.5:p.Cys166= | |
| NM_000322.4:c.497G= | NP_000313.2:p.Cys166= | |
| XR_427834.2:n.1152G= | ||
| XR_926295.1:n.1152G= | ||
| XR_427834.4:n.1202G= | ||
| XR_926295.3:n.1202G= | ||
| NM_000322.5:c.497G= MANE Select | NP_000313.2:p.Cys166= |