Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42704510G>A , CM000668.2:g.42704510G>A | GRCh38 |
| NC_000006.11:g.42672248G>A , CM000668.1:g.42672248G>A | GRCh37 |
| NC_000006.10:g.42780226G>A | NCBI36 |
| NG_009176.1:g.23111C>T | |
| NG_009176.2:g.23111C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.683C>T MANE Select | NP_000313.2:p.Thr228Ile |
| ENST00000230381.7:c.683C>T MANE Select | ENSP00000230381.5:p.Thr228Ile |
| NM_000322.4:c.683C>T | NP_000313.2:p.Thr228Ile |
| ENST00000230381.6:c.683C>T | ENSP00000230381.5:p.Thr228Ile |
| XR_427834.2:n.1338C>T | |
| XR_427834.4:n.1388C>T | |
| XR_926295.3:n.1570C>T |