Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954311A= , CM000670.2:g.19954311A= | GRCh38 |
| NC_000008.10:g.19811822A= , CM000670.1:g.19811822A= | GRCh37 |
| NC_000008.9:g.19856102A= | NCBI36 |
| NG_008855.1:g.20241A= | |
| NG_008855.2:g.57595A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.733A= MANE Select | ENSP00000497642.1:p.Ile245= | |
| ENST00000311322.8:c.733A= | ENSP00000309757.6:p.Ile245= | |
| NM_000237.2:c.733A= | NP_000228.1:p.Ile245= | |
| NM_000237.3:c.733A= MANE Select | NP_000228.1:p.Ile245= |