Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722090C>A , CM000668.2:g.42722090C>A | GRCh38 |
| NC_000006.11:g.42689828C>A , CM000668.1:g.42689828C>A | GRCh37 |
| NC_000006.10:g.42797806C>A | NCBI36 |
| NG_009176.1:g.5531G>T | |
| NG_009176.2:g.5531G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.245G>T MANE Select | ENSP00000230381.5:p.Cys82Phe | |
| ENST00000230381.6:c.245G>T | ENSP00000230381.5:p.Cys82Phe | |
| NM_000322.4:c.245G>T | NP_000313.2:p.Cys82Phe | |
| XR_427834.2:n.900G>T | ||
| XR_926295.1:n.900G>T | ||
| XR_427834.4:n.950G>T | ||
| XR_926295.3:n.950G>T | ||
| NM_000322.5:c.245G>T MANE Select | NP_000313.2:p.Cys82Phe |