Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721823A>C , CM000668.2:g.42721823A>C | GRCh38 |
| NC_000006.11:g.42689561A>C , CM000668.1:g.42689561A>C | GRCh37 |
| NC_000006.10:g.42797539A>C | NCBI36 |
| NG_009176.1:g.5798T>G | |
| NG_009176.2:g.5798T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.512T>G MANE Select | NP_000313.2:p.Phe171Cys |
| ENST00000230381.7:c.512T>G MANE Select | ENSP00000230381.5:p.Phe171Cys |
| NM_000322.4:c.512T>G | NP_000313.2:p.Phe171Cys |
| ENST00000230381.6:c.512T>G | ENSP00000230381.5:p.Phe171Cys |
| XR_427834.2:n.1167T>G | |
| XR_427834.4:n.1217T>G | |
| XR_926295.1:n.1167T>G | |
| XR_926295.3:n.1217T>G |